Hematology Flashcards
Danger Signals
Acute Hem_____
N____penia
Vitamin ____ Deficiency
(2) Lymphomas
Multiple _____
T______penia
Hemophilia ___
Acute Hemorrhage
Neutropenia
Vitamin B12 Deficiency
Hodgkin’s and Non-Hodgkin’s Lymphoma
Multiple Myeloma
Thrombocytopenia
Hemophilia A
Acute Hemorrhage
When checking the complete blood count (CBC), be aware that the initial hemoglobin and hematocrit (during active bleeding) may be in the ____ range if it is checked immediately. It may take several hours for the blood loss to show up in the CBC and the platelet count. The reticulocyte count (0.5%–2%) will increase within a few _____. R_______ is a normal response in acute blood loss.
Class I Hemorrhage = what percentage blood loss? what will happen to heart rate, BP and RR?
Class II Hemorrhage = what percentage blood loss? what will happen to heart rate and RR?
When will you see BP start to drop? At what percentage blood loss?
When checking the complete blood count (CBC), be aware that the initial hemoglobin and hematocrit (during active bleeding) may be in the normal range if it is checked immediately. It may take several hours for the blood loss to show up in the CBC and the platelet count. The reticulocyte count (0.5%–2%) will increase within a few days. Reticulocytosis is a normal response in acute blood loss.
Class I Hemorrhage = blood loss of up to 15% of blood volume, minimal increase in heart rate with no changes in blood pressure (BP) and respiratory rate
Class II Hemorrhage = Acute blood loss of 15% to 30% of blood volume (class II hemorrhage) will cause tachycardia (heart rate 100–120 beats/minute), tachypnea (respiratory rate 20–24), and decrease in pulse pressure.
Significant drop in BP usually does not manifest until about 30% to 40% blood loss (severe hemorrhage). Tachycardia (pulse >120 beats/minute) and a weaker pulse, elevated respiratory rate, and diminished urine output and mental status changes will occur. Look for signs and symptoms of shock.
Neutropenia
Neutropenia = ANC
Mild Neutropenia = ANC > _____ cells/µL)
Most common causes of mild neutropenia in adults (2)
(P____otropics, antiv____, antib_____, N_____, antith____, A____ (enalapril, captopril), and propran____)
Initial Labs for Eval (2) + H&P
What if the patient is febrile and you suspect bacterial infection?
Neutropenia = ANC <1500/mm3
Mild Neutropenia = ANC >1,000 cells/µL
Benign ethnic neutropenia (AA) and Drug-induced neutropenia
(Psychotropics, antivirals, antibiotics, NSAIDs, antithyroids, ACEI (enalapril, captopril), and propranolol)
CBC with differential, Blood smear, H&P
. If the patient is febrile and you suspect bacterial infection, urgent evaluation is important, since the patient is at high risk for bacteremia or sepsis.
Vitamin B12 Deficiency
Gradual onset of symmetric (1) starting in the feet and/or arms.
Other neurologic signs are n____ness, ataxia (positive ______ test), loss of v____ and position sense, impaired m_____, and dementia (severe cases).
Peripheral smear = m____-ovalocytes, some m_____blasts, and m____segmented neutrophils (>5 or 6 lobes).
MCV =
Gradual onset of symmetric peripheral neuropathy starting in the feet and/or arms.
Other neurologic signs are numbness, ataxia (positive Romberg test), loss of vibration and position sense, impaired memory, and dementia (severe cases).
Peripheral smear = macro-ovalocytes, some megaloblasts, and multisegmented neutrophils (>5 or 6 lobes).
MCV = >100 fL.
Hodgkin’s Lymphoma
A cancer of what cells?*
Identified by the presence of (1)*
Higher incidence
- young adults (__–__ years) or older adults (>__ years)
- gender (1)
- race (1)
S/S
- Night ____, f____, and pain with ingestion of _____ drinks.
- Generalized pr_____ with pain___ enlarged (1) (neck).
- An____ and weight ____.
A cancer of the beta lymphocytes (B cells)
Identified by the presence of Reed–Sternberg cells
Higher incidence
- young adults (20–40 years) or older adults (>60 years)
- males
- Whites
S/S
- Night sweats, fevers, and pain with ingestion of alcoholic drinks.
- Generalized pruritus with painless enlarged lymph nodes (neck).
- Anorexia and weight loss.
Non-Hodgkin’s Lymphoma
A cancer of the (1) and (1) cells*
Usually occurs in the older adult (>___ years) and presents with ____ sweats, fever, weight loss, _______ lymphadenopathy (painless).
The prognosis is ____.
A cancer of the lymphocytes (usually B cells) and killer cells*
Usually occurs in the older adult (>65 years) and presents with night sweats, fever, weight loss, generalized lymphadenopathy (painless).
The prognosis is poor.
Multiple Myeloma
=
More common in adults age __ years or older.
Symptoms of fatigue, weakness, and b____ pain that is usually located in the b___ or ch____.
Causes ____uria with B___–J____ proteins, h____calcemia, and _____cytic anemia.
A cancer of the plasma cells.
More common in adults age 70 years or older.
Symptoms of fatigue, weakness, and bone pain that is usually located in the back or chest.
Causes proteinuria with Bence–Jones proteins, hypercalcemia, and normocytic anemia.
Thrombocytopenia
- Normal platelet count =*
- Thrombocytopenia =*
- Thrombocytopenia with symptoms* =
S/S =
- Normal platelet count =* 150,000 to 450,000/μL.
- Thrombocytopenia = <150,000/μL*
- Thrombocytopenia with symptoms = <100,000/μL*
S/S = easy bruising (ecchymosis, petechiae), bleeding gums, spontaneous nosebleeds, and hematuria.
Hemophilia A
How common is it in the US?
Inheritance pattern?
Caused by deficiency of?
The most common type of hemophilia in the United States is hemophilia A.
An X-linked recessive disease that predominantly affects males who have only one X chromosome.
Hemophilia A is caused by factor VIII deficiency.
Hemophilia A S/S
- e____ bruising, exc_____ bruising
- bleeding into ____ (hemarthrosis)
- bleeding for several h___ to d____ (circumcision, dental extractions)
- severe bleeding with tr____
- _____ menses, and ____turia
Medicines that increase bleeding, such as anticoagulants, aspirin, and NSAIDs, should usually be _____
The activated partial thromboplastin time (aPTT) is prolonged, and the prothrombin time (PT), fibrinogen, and platelets are _____.
- easy bruising, excessive bruising
- bleeding into joints (hemarthrosis)
- bleeding for several hours to days (circumcision, dental extractions)
- severe bleeding with trauma
- heavy menses, and hematuria.
Medicines that increase bleeding, such as anticoagulants, aspirin, and NSAIDs, should usually be avoided.
The activated partial thromboplastin time (aPTT) is prolonged, and the prothrombin time (PT), fibrinogen, and platelets are normal.
Hemoglobin
- Males:* ____ to ____ g/dL
- Females:* ____ to ____ g/dL
- Long-term high-altitude (mountain) exposure/chronic hypoxia:* ______ (secondary _______)
- Males:* 14.0 to 18.0 g/dL
- Females:* 12.0 to 16.0 g/dL
- Long-term high-altitude (mountain) exposure/chronic hypoxia:* Elevated (secondary polycythemia)
Hematocrit
The _______ of red blood cells (RBCs) in 1 mL of plasma
- Males:* ___% to ___%
- Females:* ___% to ___%
The proportion of red blood cells (RBCs) in 1 mL of plasma
- Males:* 42% to 52%
- Females:* 37% to 47%
Mean Corpuscular Volume (MCV)
A measure of the average ____ of the RBCs in a sample of blood
Normal: ___ to ____fL (femtoliter)
Microcytic anemia MCV =
Normocytic anemia MCV =
Macrocytic anemia MCV =
A measure of the average size of the RBCs in a sample of blood
Normal: 80 to 100 fL (femtoliter)
Microcytic anemia MCV <80 fL
Normocytic anemia MCV 80 and 100
Macrocytic anemia MCV >100 fL
Mean Corpuscular Hgb Concentration (MCHC)
A measure of the average ____ of the RBCs in a sample of blood
Normal: ___ to ___ g/dL
___creased in iron-deficiency anemia (IDA) and thalassemia (____chromic); _____in macrocytic and normocytic anemias
A measure of the average color of the RBCs in a sample of blood
Normal: 31.0 to 37.0 g/dL
Decreased in iron-deficiency anemia (IDA) and thalassemia (hypochromic); normal in macrocytic and normocytic anemias
Mean Corpuscular Hemoglobin (MCH)
Indirect measure of the ____ of RBCs.
Normal: ____ to ____ pg/cell
Decreased values mean p____ or ____chromic RBCs. Mean corpuscular hemoglobin (MCH) is ___creased in IDA and thalassemia. Normal with ______cytic anemias.
Indirect measure of the color of RBCs.
Normal: 25.0 to 35.0 pg/cell
Decreased values mean pale or hypochromic RBCs. Mean corpuscular hemoglobin (MCH) is decreased in IDA and thalassemia. Normal with macrocytic anemias.
Red Cell Distribution Width (RDW)
=
How is the RDW effected in IDA and thalassemia?
A measure of the variability of the size of RBCs in a given sample.
Elevated in IDA and thalassemia.
Total Iron-Binding Capacity (TIBC)
=
What is the function of Transferrin?
Normal: ___ to ____ mcg/dL
TIBC in IDA =
TIBC in thalassemia, vitamin B12/folate deficiency =
A measure of available transferrin that is left unbound (to iron).
Transferrin is used to transport iron in the body.
Normal: 250 to 410 mcg/dL
IDA = TIBC is elevated because there is not enough iron to transport
TIBC in thalassemia, vitamin B12/folate deficiency = normal TIBC because iron levels are normal
Serum Ferritin
=
Stored in body tissue such as the sp___, l____, and bone m_____. Correlates with iron _____ status in a healthy adult. Most sensitive test for ___.
Normal: __ to ___ ng/mL
Ferritin levels in IDA =
Ferritin levels in Thalassemia trait =
Serum ferritin is the stored form of iron
Stored in body tissue such as the spleen, liver, and bone marrow. Correlates with iron storage status in a healthy adult. Most sensitive test for IDA.
Normal: 20 to 400 ng/mL
Ferritin levels in IDA = decreased
Ferritin levels in Thalassemia trait = normal to high, may be high if patient was misdiagnosed with IDA and given iron supplementation. Avoid iron supplements before testing serum ferritin level
Serum Iron
Normal: ___ to ___ mcg/dL
Iron levels in IDA =
Iron levels in thalassemia and macrocytic anemias =
Why do prefer ferritin over iron for testing with IDA?
Normal: 50 to 175 mcg/dL
Iron levels in IDA = decreased
Iron levels in thalassemia and macrocytic anemias = normal to high
Not as sensitive as ferritin, affected by recent blood transfusions
Reticulocytes
______ RBCs that still have their _____
Normal: ___% to ___% (of total RBC count)
- Reticulocytes are slightly _____ than RBCs.
- After 24 hours in circulation, reticulocytes lose their _____ and mature into RBCs (no nuclei).
- The bone marrow normally will release small amounts to replace dam______ RBCs.
- RBCs survive for _____ days before being sequestered by the _____ and broken down by the _____ into iron and globulin (recycled) and b_______ (bile).
Immature RBCs that still have their nuclei.
Normal: 0.5% to 2.5% (of total RBC count)
- Reticulocytes are slightly larger than RBCs.
- After 24 hours in circulation, reticulocytes lose their nuclei and mature into RBCs (no nuclei). T
- he bone marrow normally will release small amounts to replace damaged RBCs.
- RBCs survive for 120 days before being sequestered by the spleen and broken down by the liver into iron and globulin (recycled) and bilirubin (bile).
Reticulocytosis (More than ____% of Total RBC Count)
An elevation of reticulocytes is seen when the bone _____ is ______into producing RBCs.
Will the following conditions cause elevation of reticulocytes?
- Chronic bleeding = No because of compensation
- Iron, folate, VB12 supplementation =
- Acute bleeding =
- Hemolysis, Leukemia, EPO treatment =
What should you do if you if someone is acutely bleeding and you still see no reticulocytosis (after 3–4 days), after appropriate supplementation of deficient mineral (iron, folate, or vitamin B12), or with EPO?
Reticulocytosis (More than 2.5% of Total RBC Count)
An elevation of reticulocytes is seen when the bone marrow is stimulated into producing RBCs
Will the following conditions cause elevation of reticulocytes?
- Chronic bleeding = No because of compensation
- Iron, folate, VB12 supplementation = Yes
- Acute bleeding = Yes
- Hemolysis, Leukemia, EPO treatment = Yes
If no reticulocytosis after an acute bleeding episode (after 3–4 days), after appropriate supplementation of deficient mineral (iron, folate, or vitamin B12), or with EPO, rule out bone marrow failure (i.e., aplastic anemia). Diagnosed by bone marrow biopsy.
Poikilocytosis (Peripheral Smear)
=
- Seen with severe (1) anemia .
- RBCs ___normal with variable _____ seen in the peripheral smear.
- May be accompanied by ____cytosis (variable size of RBCs).
Poikilocytosis refers to an increase in abnormal red blood cells of any shape that makes up to 10% or more of the total population. Poikilocytes can be flat, elongated, teardrop-shaped, crescent-shaped, sickle-shaped, or can have pointy or thorn-like projections, or may have other abnormal feature
- Seen with severe IDA.
- RBCs abnormal with variable shapes seen in the peripheral smear.
- May be accompanied by anisocytosis (variable sizes of RBCs).
Serum Folate and Vitamin B12
Deficiency will cause a _____ anemia.
- Normal folate level:* ___ to ____ ng/mL
- Normal vitamin B12 level:* >____ pg/mL
Deficiency will cause a macrocytic anemia.
- Normal folate level:* 3.1 to 17.5 ng/mL
- Normal vitamin B12 level:* >250 pg/mL
White Blood Cells With Differential
- Normal WBC count* (child older than 2 years to adults) =
- White blood cell (WBC) differential =*
The differential for each type of WBC should add up to a total of ____%.
- Normal WBC count* (child older than 2 years to adults) is 5.0 to 10.0 × 109 (5,000–10,000/10 mm3)
- White blood cell (WBC) differential =* Percentage of each type of leukocyte in a sample of blood.
The differential for each type of WBC should add up to a total of 100%.
WBC Differential
Pneumonic =
What are the percentages?
Band forms or stabs (immature neutrophils): __% to __%
Never Let Monkeys Eat Bananas
Neutrophils 60%
Lymphocytes 30%
Monocytes 6%
Eosinophils 3%
Basophils 1%
Band forms or stabs (immature neutrophils): 0% to 5%
Gold Standard Test for hemoglobinopathies such as sickle cell anemia, thalassemias?
Hemoglobin Electrophoresis
Normal Hemoglobin
Normal hemoglobin contains two ____ and two ____ chains.
Adult norms: composed of 97% (1) + 2.5% (1) An extremely small amount of total hemoglobin is <1% (1), which is a normal finding.
Normal hemoglobin contains two alpha and two beta chains.
Adult norms: composed of 97% (Hemoglobin A HbA) + 2.5% (Hemoglobin A2 HbA2) An extremely small amount of total hemoglobin is <1% ((fetal) Hemoglobin F (HbF), which is a normal finding.
Polycythemia Definition
Hematocrit in adults of more than __ % in women and more than __% in men
Hemoglobin in adults of more than ___% in women and more than ___% in men
Hematocrit in adults of more than 48% in women and more than 52% in men
Hemoglobin in adults of more than 16.5% in women and more than 18.5% in men
Remember the values on the higher range of normal
Secondary Polycythemia Causes
These conditions have a higher incidence of secondary polycythemia (as opposed to primary polycythemia vera).
- Chronic sm_____
- long-term (1) lung disease
- long-time residents at ____ altitudes
- E_ _ treatment
- Chronic smokers
- long-term chronic obstructive pulmonary disease (COPD)
- long-time residents at high altitudes
- EPO treatment
High-Altitude Stress
Lower barometric pressure causes a reduction in?
What conditions leave people at higher risk of complications? (3)
Patients with (1) disease should avoid being in an area that is 7,000-ft elevation or higher.
Lower barometric pressure causes a reduction in the arterial PO2.
Patients with coronary artery disease (CAD), congestive heart failure (CHF), or sickle cell anemia are at higher risk of complications.
Patients with sickle cell disease should avoid being in an area that is 7,000-ft elevation or higher.
(1)
Simply defined as a decrease in the hemoglobin/hematocrit value below the norm for the patient’s age and gender.
Most common Anemia in the world for all races, ages and genders?
Anemia
IDA is the most common type of anemia in the world for all races, ages, and genders.
Iron-Deficiency Anemia
Describe IDA in terms of size and color of the RBCs
What is another type of anemia that causes this appearance of RBC?
Microcytic and Hypochromic (small and pale RBCs)
Thalassemia trait/minor also causes microcytic and hypochromic anemia
Classic Case of IDA
Most are _______ if mild.
Moderate-to-severe cases may have p_____ of the skin, conjunctivae, and nail beds.
Complaints of daily f____ and exertional dy_____.
May have (1) (sore and shiny red tongue) and (1) (irritated skin or fissures at the corners of the mouth).
Cravings for nonfood items such as i__ or dirt (p__).
Severe anemia will cause ____-shaped nails (_______), systolic m____, tachycardia, or heart failure.
Most are asymptomatic if mild.
Moderate-to-severe cases may have pallor of the skin, conjunctivae, and nail beds.
Complaints of daily fatigue and exertional dyspnea.
May have glossitis (sore and shiny red tongue) and angular cheilitis (irritated skin or fissures at the corners of the mouth).
Cravings for nonfood items such as ice or dirt (pica).
Severe anemia will cause spoon-shaped nails (koilonychia), systolic murmurs, tachycardia, or heart failure.
IDA Causes
Most common cause =
- Reproductive-aged females (_____ periods, pr_____)
- Poor d____
- Post_____tomy
- Children:* Low d______ intake, diet deficient in ____
- Infants:* Rule out chronic intake of _____ milk before 12 months of age (causes GI bleeding) in anemic infants
Most common cause is blood loss (overt or occult). In adults, blood loss from the gastrointestinal (GI) tract caused by peptic ulcer disease (PUD), NSAID use, or cancer is most likely.
- Reproductive-aged females (heavy periods, pregnancy)
- Poor diet
- Postgastrectomy
- Children:* Low dietary intake, diet deficient in iron
- Infants:* Rule out chronic intake of cow’s milk before 12 months of age (causes GI bleeding) in anemic infants
IDA Labs
During the early phase of IDA or acute blood loss, the MCV (size) and the MCHC (color) can still be in the normal range, and the RBCs will be normocytic and normochromic.
In IDA, what will these values show?
- Hemoglobin and hematocrit =
- MCV =
- MCHC =
- Iron level =
- Ferritin =
- TIBC =
- Peripheral Smear (2)
- Hemoglobin and hematocrit = Low
- MCV = <80 (microcytic RBCs)
- MCHC = hypochromic or pale RBCs
- Iron level = Low
- Ferritin = Low
- TIBC = Increased
- Peripheral Smear = Anisocytosis (variations in size) and poikilocytosis (variations in shape)
IDA Pharm Treatment
Rx (1)
- Should you take it with meals or between meals? why?
- What can you take with it to for better absorption?
Ferrous sulfate 325 mg PO TID
- Should take it between meals because it is better absorbed on an empty stomach, but it is usually taken with meals because it causes lower GI distress
- Take with vitamin C or orange juice for better absorption
Iron SE/Interactions
Common side effects of iron:
- GI side effects include? (3)
- What can you take for constipation? Rx (1)
- Interactions:*
- Avoid taking iron supplements at the same time as ant____, d____ products, q_____, or tet_____ (iron binds with these substances and is inactivated).
Common side effects of iron:
- Constipation, black-colored stools are common; stomach upset may occur.
- Docusate sodium (Colace) is a stool softener (not a laxative). Taken daily, it will soften stool.
- Interactions:*
- Avoid taking iron supplements at the same time as antacids, dairy products, quinolones, or tetracyclines (iron binds with these substances and is inactivated).
Iron Supplementation Follow Up
How long will it take for the Hgb/Hct to normalize?
When should you continue therapy until?
What count should you check 2 weeks after starting supplementation to check for treatment response?
Hgb/Hct will normalize by 2 months,
but continue therapy until the Ferritin level increases to normal levels (can take 3–6 months to replace)
Check the reticulocyte count 2 weeks after starting supplementation to check for treatment response (elevated reticulocytes indicates normal bone morrow).
IDA Non-Pharm Treatment
Cook with what type of cookware?
Increase f____ and fl____. Consider fiber supplements (psyllium, guar gum) for con_____.
Iron-rich foods are ___ meat, some ____ (e.g., _____ beans), and (1) vegetables.
Use of cast-iron cookware can help increase iron source for vegans and vegetarians.
Increase fiber and fluids. Consider fiber supplements (psyllium, guar gum) for constipation.
Iron-rich foods are red meat, some beans (e.g., black beans), and green leafy vegetables.
(1)
A genetic disorder in which the bone marrow produces abnormal hemoglobin (defective alpha- or beta-globin chains). Normal hemoglobin contains two alpha and two beta chains. Results in a microcytic/hypochromic anemia.
Thalassemia Minor (or Trait)
Thalassemia Minor (or Trait) Incidence
Ethnic groups: Occurs in people from the M______, North ____, _____East, and Southeast ____.
____-thalassemia is more common in Southeast Asians (Chinese, Cambodians, Filipinos, Thai people).
Ethnic groups: Occurs in people from the Mediterranean, North Africa, Middle East, and Southeast Asia.
Alpha-thalassemia is more common in Southeast Asians (Chinese, Cambodians, Filipinos, Thai people).
Thalassemia Trait (Minor) Classic Case
Vast majority of individuals are _______* Discovered incidentally because of abnormal ____results, which reveal ____cytic and ____chromic RBCs. Total RBC count may be mildly elevated. Ethnic background is either M_______ or A____. Ask about family history of thalassemia.
Vast majority of individuals are asymptomatic*. Discovered incidentally because of abnormal CBC results, which reveal microcytic and hypochromic RBCs. Total RBC count may be mildly elevated. Ethnic background is either Mediterranean or Asian. Ask about family history of thalassemia.
Thalassemia Minor (Trait) Diagnostics
Gold-standard diagnostic test: (1)
- In ____ -thalassemia, abnormal (elevated hemoglobin A2 [HbA2] and Hb F, or fetal hemoglobin)
- In ____ thalassemia, abnormal (Hb Barts, absence of Hb A)
- Blood smear:* (3) cytosis
- Serum ferritin and iron level =*
Gold-standard diagnostic test: Hemoglobin electrophoresis
- In beta-thalassemia, abnormal (elevated hemoglobin A2 [HbA2] and Hb F, or fetal hemoglobin)
- In alpha thalassemia, abnormal (Hb Barts, absence of Hb A)
- Blood smear:* Microcytosis, anisocytosis, and poikilocytosis
- Serum ferritin and iron level:* Normal (but low in IDA)
Thalassemia Trait (Minor) Treatment Plan
Do you need to treat these patients?
Genetic counseling: Educate about the possibility of having a ____ with the disease if partner also has trait (__% chance, or one in four, of their children)
Thalassemia minor/trait does not need treatment (asymptomatic genetic disease)
Genetic counseling: Educate about the possibility of having a child with the disease if partner also has trait (25% chance, or one in four, of their children)
Iron Deficiency Anemia
Diagnostic Tests
- Ferritin/serum iron ___
- TIBC ___
- RDW ___
Red Blood Cell Changes
- MCV =
- MCHC =
- _____cytosis (variable shapes)
- _____cytosis (variable sizes)
Diagnostic Tests
- Ferritin/serum iron ↓
- TIBC ↑
- RDW ↑
Red Blood Cell Changes
- MCV <80 fL (microcytic)
- MCHC ↓ (hypochromic)
- Poikilocytosis (variable shapes)
- Anisocytosis (variable sizes)
Thalassemia Minor
Diagnostic Test*
- **Hemoglobin ________**
Red Blood Cell Changes
- Abnormal
MCV =
MCHC =
Diagnostic Test*
- Hemoglobin electrophoresis
Red Blood Cell Changes
- Abnormal
MCV <80 fL (microcytic)
MCHC ↓ (hypochromic)
Pernicious Anemia
=
Diagnostic Test*
- (1)***
- Most common cause of ______–deficiency anemia
Red Blood Cell Changes
- MCV =
- _____blastic RBCs
- MCHC =
Pernicious anemia is a decrease in red blood cells that occurs when the intestines cannot properly absorb vitamin B12.
Diagnostic Test*
- Antiparietal antibodies ↑
- Most common cause of vitamin B12–deficiency anemia
Red Blood Cell Changes
- MCV >100 fL (macrocytic)
- Megaloblastic RBCs
- MCHC = Normal color (normochromic)
Folate Deficiency
Diagnostic Test*
- Folate level =
- Homocysteine =
Red Blood Cell Changes
- MCV =
- ______blastic RBCs
- MCHC =
Diagnostic Test*
- Folate level ↓
- Homocysteine ↑
Red Blood Cell Changes
- MCV >100 fL (macrocytic)
- Megaloblastic RBCs
- Normal color (normochromic)
Homocysteine is an amino acid. Vitamins B12, B6 and folate break down homocysteine to create other chemicals your body needs.
Vitamin B12 Deficiency
Diagnostic Test*
- B12 level =
- ____segmented neutrophils (>5 or 6 lobes)
Red Blood Cell Changes
- MCV =
- para_____*, ____ness*
- ____blastic RBCs
- MCHC =
Diagnostic Test*
- B12 level ↓
- Hypersegmented neutrophils (>5 or 6 lobes)
Red Blood Cell Changes
- MCV >100 fL (macrocytic)
- paresthesias, numbness
- Megaloblastic RBCs
- Normal color (normochromic)
Normocytic Anemia
Diagnostic Test*
- MCV ___–___ fL
- History of _____ disease or ______ disease such as rheumatoid arthritis
Red Blood Cell Changes
- MCV =
- MCHC =
Diagnostic Test*
- MCV 80–100 fL
- History of chronic disease or inflammatory disease such as rheumatoid arthritis
Red Blood Cell Changes
- MCV 80–100 fL (normal-sized RBCs)
- Normochromic RBCs
Sickle Cell Anemia
Diagnostic Test*
- (1)**
- HbS and Hb__ both elevated
- Reticulocytes =
- A hemo_____ anemia
Red Blood Cell Changes
- Sickle-shaped RBCs with ______ life span of ___–__ days (norm is 120 days)
- Peripheral smear = (1) bodies and (1) cells
- MCV/MCHC =
Diagnostic Test*
- Hemoglobin electrophoresis
- HbS and HbF both elevated
- Reticulocytosis
- A hemolytic anemia
Red Blood Cell Changes
- Sickle-shaped RBCs with shortened life span of 10–20 days (norm is 120 days)
- Howell–Jolly bodies and target cells (peripheral smear)
- Normocytic/normochromic
(1)
______ diseases (e.g., rheumatoid arthritis [RA], lupus) or chronic inflammatory disorders impair bone marrow function and cause ___cytic anemia
The (2) markers are elevated.
Treatment of underlying autoimmune disease will reduce systemic inflammation and may help the bone marrow recover.
Anemia of Chronic Disease
Autoimmune diseases (e.g., rheumatoid arthritis [RA], lupus) or chronic inflammatory disorders impair bone marrow function and cause normocytic anemia (MCV 80–100 fL).
The erythrocyte sedimentation rate (ESR or sed rate) or C-reactive protein (CRP) are elevated.
Treatment of underlying autoimmune disease will reduce systemic inflammation and may help the bone marrow recover.
Anemia of Chronic Kidney Disease
Anemia of chronic kidney disease (CKD) is a h___proliferative, ______cytic, and _____chromic anemia.
Defined as hemoglobin
Occurs due to the decrease in renal ____ production secondary to the CKD, which reduces the production of reticulocyte and RBC production and causes worsening anemia. In addition, patients may also have functional ____ deficiency and/or acute and chronic inflammatory conditions.
Anemia of chronic kidney disease (CKD) is a hypoproliferative, normocytic, and normochromic anemia.
Defined as hemoglobin <11 g/dL in pregnant women, <12 g/dL in nonpregnant women, and <13 g/dL in men.
Occurs due to the decrease in renal EPO production secondary to the CKD, which reduces the production of reticulocyte and RBC production and causes worsening anemia. In addition, patients may also have functional iron deficiency and/or acute and chronic inflammatory conditions.
Anemia of Chronic Kidney Disease Treatment Plan
The anemia should be treated using conventional methods. If not improving can use
(2)Rx
Erythropoiesis-Stimulating Agents (ESAs)
Iron (PO or IV)
PO iron for patients not treated with dialysis.
IV iron is used for hemodialysis and/or severe iron deficiency.
Exam Tips
The screening test for all anemias is the (1)
The diagnostic test for thalassemia and sickle cell anemia is(1)
Learn to differentiate the lab results of thalassemia from IDA
- If the ferritin level is low, the patient has = _____
- If the ferritin level is normal to high, the patient has = ______
The _____ background may not be “revealed” in a question about thalassemia.
Patients with chronic illness and/or autoimmune disease have higher risk of _____cytic anemia.
The screening test for all anemias is the CBC (hemoglobin/hematocrit).
The diagnostic test for thalassemia and sickle cell anemia is hemoglobin electrophoresis.
Learn to differentiate the lab results of thalassemia from IDA
- If the ferritin level is low, the patient has IDA.
- If the ferritin level is normal to high, the patient has thalassemia minor/trait.
The ethnic background may not be “revealed” in a question about thalassemia.
Patients with chronic illness and/or autoimmune disease have higher risk of normocytic anemia.
Clinical Pearls
Best absorbed form of iron supplementation (and cheapest) is ferrous _____ (available OTC).
If patients took an ant_____, ask them to wait about ___ hours before taking an iron pill (minimizes binding).
Iron interacts with tet_____ antibiotics, levo______, and bis_______ (decreases effectiveness). To avoid, take iron 2 hours before or after an anti_____.
Best absorbed form of iron supplementation (and cheapest) is ferrous sulfate (available OTC).
If patients took an antacid, ask them to wait about 4 hours before taking an iron pill (minimizes binding).
Iron interacts with tetracycline antibiotics, levothyroxine, and bisphosphonates (decreases effectiveness). To avoid, take iron 2 hours before or after an antibiotic.
Clinical Pearls
Failure to respond (if treatment compliant) may be a sign of con_____ blood loss, mis_____ (has thalassemia instead of IDA), or mal______ (e.g., celiac disease).
Iron poisoning in children (especially if age <6 years) may cause _____. Advise patients to store iron supplements in an area that is?
Medications reported to lower hemoglobin levels and worsen anemia include (2) in patients of chronic diseases (CKD, diabetes, chronic HF, hypertension).
Failure to respond (if treatment compliant) may be a sign of continuing blood loss, misdiagnosis (has thalassemia instead of IDA), or malabsorption (e.g., celiac disease).
Iron poisoning in children (especially if age <6 years) may cause death. Advise patients to store iron supplements in an area that is not accessible to children (or grandchildren).
Medications reported to lower hemoglobin levels and worsen anemia include angiotensin receptor blockers (ARBs) and ACEIs in patients of chronic diseases (CKD, diabetes, chronic HF, hypertension).
Macrocytic/Megaloblastic Anemias
(2)
- Vitamin B12–Deficiency Anemia*
- Pernicious Anemia*
Vitamin B12–Deficiency Anemia
Caused by a deficiency in vitamin B12, which is necessary for the health of n_____ and the br____ and normal ___ production of RBCs.
Chronic vitamin B12 deficiency causes _____ damage (peripheral ______, para_____) and brain damage (d______ if severe). Neurologic damage may not be rev______.
Caused by a deficiency in vitamin B12, which is necessary for the health of neurons and the brain and normal DNA production of RBCs.
Chronic vitamin B12 deficiency causes nerve damage (peripheral neuropathy, paraplegia) and brain damage (dementia if severe). Neurologic damage may not be reversible.
Vitamin B12–Deficiency Anemia
- Total body supply of vitamin B12 lasts __ to __ years.
- Highest incidence in older (1) gender.
- Common causes of vitamin B12–deficiency anemia include
- Most common cause = (1)* anemia
- g____ disease/infections
- medications such as ant____ (2) and met______
- Total body supply of vitamin B12 lasts 3 to 4 years.
- Highest incidence in older women gender.
- Common causes of vitamin B12–deficiency anemia include
- Most common cause pernicious anemia = malabsorption
- gastric disease/infections
- medications such as antacids, H2-receptor antagonists, proton-pump inhibitors [PPIs], and metformin).
(1)
An autoimmune disorder caused by the destruction of parietal cells in the fundus (by antiparietal antibodies), resulting in cessation of intrinsic factor production. Intrinsic factor is necessary in order to absorb vitamin B12 from the small intestine.
Pernicious Anemia
VB12 Deficiency
Cobalamin (vitamin B12) deficiency may result from dietary insufficiency.
May occur in patients with st____, small bowel, and pancreatic disorders; infections; and severe dietary deficiencies of m___ and m___, as seen in strict v_______.
Dietary deficiency may take more than __ years to occur.
Iron deficiency commonly coexists with _____ anemia.
Patients with pernicious anemia have a two- to threefold increase in incidence of gastric _____
May occur in patients with stomach, small bowel, and pancreatic disorders; infections; and severe dietary deficiencies of meats and milk, as seen in strict vegetarians.
Dietary deficiency may take more than 5 years to occur.
Iron deficiency commonly coexists with pernicious anemia.
Patients with pernicious anemia have a two- to threefold increase in incidence of gastric carcinoma
VB12 Deficiency
- Other causes of vitamin B12 deficiency:* Alterations in g_____ anatomy (e.g., bariatric surgery, gastrectomy), strict ____, alc____, small _____ disease
- Vitamin B12 sources:* All foods of ____ origin (m___, p____, e____, m___, ch_____)
- Other causes of vitamin B12 deficiency:* Alterations in gastric anatomy (e.g., bariatric surgery, gastrectomy), strict vegans, alcoholics, small bowel disease
- Vitamin B12 sources:* All foods of animal origin (meat, poultry, eggs, milk, cheese)
Classic Case of VB12 Deficiency Anemia
Older woman complains of gradual onset of pa______ on her feet and/or hands that is slowly getting more severe. She has pal___, pale conjunctivae, gl_____, and other signs of anemia. Neuropathic symptoms may include any of the following:
- T____/N____ness of hands and feet
- Neuropathy starts in ____ nerves and migrates _____
- Difficulty w_____ (gross motor)
- Difficulty in performing _____ motor skills (hands)
Older woman complains of gradual onset of paresthesias on her feet and/or hands that is slowly getting more severe. She has pallor, pale conjunctivae, glossitis, and other signs of anemia. Neuropathic symptoms may include any of the following:
- Tingling/numbness of hands and feet
- Neuropathy starts in peripheral nerves and migrates centrally
- Difficulty walking (gross motor)
- Difficulty in performing fine motor skills (hands)
VB12 Deficiency Anemia Objective Findings
___creased reflexes in affected extremity. If the legs are involved, the ankle jerk (______ reflex) will be reduced (“+__” is sluggish, and “0” is none). Normal reflex is grade “+__.”
- Motor tests: Weak hand gr____, decreased v______ sense, abnormal Rom____
- Inflamed tongue and gl_____ (not a specific finding because it is found in other disorders) are seen
Decreased reflexes in affected extremity. If the legs are involved, the ankle jerk (Achilles reflex) will be reduced (“+1” is sluggish, and “0” is none). Normal reflex is grade “+2.”
- Motor tests: Weak hand grip, decreased vibration sense, abnormal Romberg
- Inflamed tongue and glossitis (not a specific finding because it is found in other disorders) are seen
Warning about VB12 Deficiency
Always check both serum (2) levels in macrocytic anemias.
- A patient can be deficient in both B12 and folate.
- Do you have to supplement both folate and B12 to increase Hgb/Hct?
- Untreated B12 deficiency anemia results in permanent _____ sequelae (____pathy, br____ damage).
Always check both serum B12 and serum folate levels in macrocytic anemias.
- A patient can be deficient in both B12 and folate.
- The hemoglobin and hematocrit will go up with folate supplementation only (even if still deficient in B12).
- Untreated B12 deficiency anemia results in permanent neurologic sequelae (neuropathy, brain damage).
VB12 Deficiency Workup
Check both (2)
Decreased vitamin B12 level (
- Antibody tests:* (2)
- 24-hour urine test for methylmalonic acid (MMA) level =*
- Homocysteine level =*
Check for both vitamin B12 level and folate level (both levels must always be checked together).
Decreased vitamin B12 level (<150 pg/mL)
- Antibody tests:* Antiparietal and anti-intrinsic factor (IF) antibody
- 24-hour urine test for methylmalonic acid (MMA):* Elevated
- Homocysteine level:* Elevated in vitamin B12 (and folate) deficiency
- Methylmalonic acid (MMA) is* a small water-soluble organic acid that is currently best known for its use as a functional marker for vitamin B12 deficiency
(1) Test
Not commonly used now; positive if vitamin B12 (radioactive) excretion is normal after administration of intrinsic factor (but has poor excretion when given vitamin B12 alone) (Vitamin B12 absorption test)
Schilling Test
VB12 Deficiency Peripheral blood smear
MCV =
Neutrophils =
Erythropoiesis =
When should you check labs (2) after starting supplementation to check for treatment response?
Macrocytosis
Hypersegmented neutrophils (>5 or 6 lobes)
Evidence of defective erythropoiesis
Check the reticulocyte count and CBC approximately 2 weeks after starting supplementation to check for treatment response (elevated reticulocytes, hemoglobin/hematocrit will increase)
Most often hypersegmented neutrophils are associated with megaloblastic anemia
VB12 Deficiency Treatment
Pernicious Anemia =
- Initially, give B12 _____ 1,000 mcg (1 mg) per week for 4 weeks; then monthly B12 injections for lifetime.
- Alternative is very ____ ____ doses of B12 (1,000–2,000 mcg) by mouth daily.
- Oral B12 vs. Parenteral B12?
- (2) situations where you should use injections instead of oral
Pernicious Anemia = give B12 supplementation
- Initially, give B12 injections 1,000 mcg (1 mg) per week for 4 weeks; then monthly B12 injections for lifetime.
- Alternative is very high oral doses of B12 (1,000–2,000 mcg) by mouth daily.
- Oral vitamin B12 replacement may be as effective as parenteral vitamin B12.
- Parenteral replacement should be used for patients with neurologic changes and/or concerns regarding gastric absorption of vitamin B12.
(1)
Anemia caused by destruction of the pluripotent stem cells inside the bone marrow and has multiple causes (e.g., radiation, adverse effects of a drug, viral infection). Bone marrow production slows or stops—____ cell lines are affected. The result is ______penia (leukopenia, anemia, thrombocytopenia).
Aplastic Anemia
Anemia caused by destruction of the pluripotent stem cells inside the bone marrow and has multiple causes (e.g., radiation, adverse effects of a drug, viral infection). Bone marrow production slows or stops—all cell lines are affected. The result is pancytopenia (leukopenia, anemia, thrombocytopenia).
Classic Case of Aplastic Anemia
Patient with severe case of ____ presents with fatigue and weakness. Skin and mucosa are a pale color. Tachycardia and systolic flow murmur are present.
______ results in bacterial and fungal infections.
_____ results in large bruises from trauma and bleeding. Signs and symptoms depend on the severity of the aplastic anemia.
Patient with severe case of anemia presents with fatigue and weakness. Skin and mucosa are a pale color. Tachycardia and systolic flow murmur are present.
Neutropenia results in bacterial and fungal infections.
Thrombocytopenia results in large bruises from trauma and bleeding. Signs and symptoms depend on the severity of the aplastic anemia.
Aplastic Anemia Diagnosis and Treatment
Gold standard diagnostic =
Lab (1)
Treatment =
Gold standard diagnostic = bone marrow biopsy.
Lab = CBC with differential
Treatment = Refer to hematologist ASAP or ED if septic
(1)
Genetic disorder in which the intestinal absorption of iron increases, leading to total-body iron overload. It takes decades for significant iron deposition to occur.
Hemochromatosis
Hemochromatosis Symptoms
Symptoms includes chronic fatigue, skin ____pigmentation (bronze), _____ of the second and third metacarpal phalangeal joints (fingers), and generalized joint st____.
Iron overload damages the organs, including the liver (3), the heart (4), and other organs.
Symptoms includes chronic fatigue, skin hyperpigmentation (bronze), swelling of the second and third metacarpal phalangeal joints (fingers), and generalized joint stiffness.
Iron overload damages the organs, including the liver (fibrosis, cirrhosis, and liver cancer), the heart (cardiomyopathy, heart failure, arrhythmias, and death), and other organs.
Hemochromatosis Labs and Treatment
- LFTs =
- Serum ferritin =
- Transferrin =
Treatment =
- LFTs = elevated AST, ALT
- Serum ferritin = high serum ferritin >500
- Transferrin = high transferrin saturation
Therapeutic phlebotomy
(main tx for symptomatic pts with very high ferritin levels)
Exam Tips
Gold-standard test for sickle cell disease =
Pernicious anemia results in:
- (1)–deficiency anemia
- ____cytic/____blastic ____chromic anemia
- N______ symptoms
Gold-standard test for sickle cell disease is hemoglobin electrophoresis.
Pernicious anemia results in:
- Vitamin B12–deficiency anemia
- Macrocytic/megaloblastic normochromic anemia
- Neurologic symptoms
Exam Tips
All U.S. states and territories and the District of Columbia require that every newborn be tested for what disease?
(2) Antibodies elevated in pernicious anemia
All U.S. states and territories and the District of Columbia require that every newborn be tested for sickle cell disease as part of the newborn screening test after birth.
If the parietal antibody test (antiparietal antibody) and/or the intrinsic factor antibody test (anti-IF) are elevated, the patient has pernicious anemia.
Clinical Pearls
- In a person with normal bone marrow, supplementing the deficient substance (iron, B12, folate) will cause the hemoglobin/hematocrit to increase starting at __-__ weeks; the hemoglobin/hematocrit will be back to normal within __ to __ weeks.
- Serum vitamin B12 levels may be ____ in up to 5% of patients with vitamin B12 deficiency. Do not rely on vitamin B12 levels alone. Also check anti_____, urine ____, and so forth.
- In a person with normal bone marrow, supplementing the deficient substance (iron, B12, folate) will cause the hemoglobin/hematocrit to increase starting at 1 to 2 weeks; the hemoglobin/hematocrit will be back to normal within 4 to 8 weeks.
- Serum vitamin B12 levels may be normal in up to 5% of patients with vitamin B12 deficiency. Do not rely on vitamin B12 levels alone. Also check antibodies, urine MMA, and so forth.
Clinical Pearls
- Missing a diagnosis of vitamin B12 deficiency can result in irreversible n______ damage.
- Any patient complaining of _____pathy or who has dem____ should have vitamin B12 levels checked.
- Almost 1 out of every 500 African Americans in the United States has (1) anemia.
- Missing a diagnosis of vitamin B12 deficiency can result in irreversible neurologic damage.
- Any patient complaining of neuropathy or who has dementia should have vitamin B12 levels checked.
- Almost 1 out of every 500 African Americans in the United States has sickle cell anemia.
Folic Acid–Deficiency Anemia
Deficiency in folate results in damage to the ____ of RBCs, which causes ____cytosis (MCV >100 fL). The body’s supply of folate lasts 2 to 3 months.
Does Folic acid deficiency cause neurologic damage?
Deficiency in folate results in damage to the DNA of RBCs, which causes macrocytosis (MCV >100 fL). The body’s supply of folate lasts 2 to 3 months.
Does not cause neurologic damage.
Folic Acid–Deficiency Anemia Causes
- Most common cause:* Inadequate ____ intake (elderly, infants, alc____, ____cooking vegetables, low cit____ intake). Chronic ____ism and poor nutrition contribute to a decrease in the amount of vitamin B12 released from dietary proteins.
- Other causes:* Increased ph_____ need (pregnancy) and mal______ (gluten enteropathy) cause folic acid–deficiency anemia.
- Drugs (long term)* that interfere with folate absorption: _____ (Dilantin), _____–sulfa, met_____, met_____, sulfasalazine, zidovudine (Retrovir, azidothymidine), and others
- Most common cause:* Inadequate dietary intake (elderly, infants, alcoholics, overcooking vegetables, low citrus intake). Chronic alcoholism and poor nutrition contribute to a decrease in the amount of vitamin B12 released from dietary proteins.
- Other causes:* Increased physiologic need (pregnancy) and malabsorption (gluten enteropathy) cause folic acid–deficiency anemia.
- Drugs (long term)* that interfere with folate absorption: Phenytoin (Dilantin), trimethoprim–sulfa, metformin, methotrexate, sulfasalazine, zidovudine (Retrovir, azidothymidine), and others
Folic Acid–Deficiency Anemia Classic Case
Older patient and/or alc_____ older man complains of anemia signs/symptoms (tiredness, fatigue, pallor, and a reddened and sore tongue, or glossitis). ___ neurologic complaints. If anemia is severe (applies to all anemias), may have tachycardia, palpitations, angina, or HF.
Older patient and/or alcoholic older man complains of anemia signs/symptoms (tiredness, fatigue, pallor, and a reddened and sore tongue, or glossitis). No neurologic complaints. If anemia is severe (applies to all anemias), may have tachycardia, palpitations, angina, or HF.
Folic Acid–Deficiency Anemia
- CBC:* ___creased hemoglobin and hematocrit, __creased MCV
- Peripheral smear:* M____-ovalocytes, _______ neutrophils (>5 or 6 lobes)
- Folate level:* Low (>__ ng/mL rules out folate deficiency)
- Food sources:* (1) vegetables (kale, collard greens), gr____, b____, li___
- CBC:* Decreased hemoglobin and hematocrit, increased MCV
- Peripheral smear:* Macro-ovalocytes, hypersegmented neutrophils (>5 or 6 lobes)
- Folate level:* Low (>4 ng/mL rules out folate deficiency)
- Food sources:* Leafy green vegetables (kale, collard greens), grains, beans, liver
Folic Acid Deficiency Anemia Treatment Plan
Rx (1)
Correct primary cause. Improve diet. Stop _______ vegetables.
Folic acid PO 1 to 5 mg/day.
Treat until RBC indicators and anemia are normal.
Correct primary cause. Improve diet. Stop overcooking vegetables.
Folic Acid Deficiency in Women of Childbearing Age
Recommendation for all women who may become pregnant =
For how long prior to conception?
Decreases risk of?
What about women who have had previous children with neural tube defects?
It is recommended that all women who may become pregnant take a folic acid supplement 400 mcg daily
At least 1 month (or longer) prior to conception to enhance normal fetal development and
Decrease the incidence of neural tube defects.
Women who have had a previous child born with a neural tube defect require higher doses of folic acid, 4 mg daily.
Hemolytic Anemias
(2)
- Glucose-6-Phosphate Dehydrogenase Deficiency Anemia*
- Sickle Cell Anemia*
Hemolytic Anemias Overview
A group of _____ diseases that decrease red blood cell life span with increased ____.
For the exam, there are (2)
Acute hemolysis of RBCs causes a drop in the hemoglobin and hematocrit, reticulocytosis, and elevation of indirect _____ (causes jaundice).
A group of genetic diseases that decrease red blood cell life span with increased lysis.
For the exam, there are two: sickle cell trait and glucose-6-phosphate dehydrogenase deficiency (G6PD) anemia.
Acute hemolysis of RBCs causes a drop in the hemoglobin and hematocrit, reticulocytosis, and elevation of indirect bilirubin (causes jaundice).
(1)
An X-linked recessive genetic disease that is more common in males (XY chromosome, only one X chromosome) that is usually asymptomatic, unless hemolysis occurs. Most common enzymatic RBC disorder.
- Majority of patients are (1) gender who are of A___ or M____ descent; some are A____.
- Most females with G6PD are?
- Infants are at higher risk of neonatal _______
Glucose-6-Phosphate Dehydrogenase Deficiency Anemia
- Majority of patients are males who are of African or Mediterranean descent; some are Asians.
- Most females with G6PD are unaffected carriers.
- Infants are at higher risk of neonatal jaundice.
G6PD Deficiency Anemia Causes
What does the enzyme G6PD usually do? ___ variants of the enzyme
Drugs that trigger Hemolysis = prima____, hydroxy_____, s____ drugs, _____zolamide, dap____
Other triggers of Hemolysis = f___ beans, red Egyptian and black h_____, fever, acute infections, stress, others.
G6PD protects red blood cells against oxidative damage. 5 variants of the enzyme
Drugs that trigger Hemolysis = primaquine, hydroxychloroquine, sulfa drugs, acetazolamide, dapsone
Other triggers of Hemolysis = fava beans, red Egyptian and black henna, fever, acute infections, stress, others.
G6PD Deficiency Anemia
About __ to __ days after drug ingestion, will have hemolytic episode with acute onset of j______, yellow sclerae, pallor, fatigue, _____ of breath, _____cardia, and _____ urine (ab_____ fall of hemoglobin by _–_ g/dL).
Check the (2) labs.
Is the hemolysis always life threatening?
About 2 to 4 days after drug ingestion, will have hemolytic episode with acute onset of jaundice, yellow sclerae, pallor, fatigue, shortness of breath, tachycardia, and dark urine (abrupt fall of hemoglobin by 3–4 g/dL).
Check the CBC and peripheral blood smear.
Hemolysis can be mild and self-limiting in some, and severe and life-threatening in others.
Genetics (X-Linked Recessive)
Father (has G6PD) and mother (unaffected) = how are daughters and sons effected?
Father (unaffected) and mother (carrier) = how are daughters and sons effected?
Father (has G6PD) and mother (unaffected) = daughters (100% carriers), sons (100% not affected)
Father (unaffected) and mother (carrier) = daughters (50% unaffected; 50% carrier), sons (50% unaffected; 50% have G6PD)
1st situation = A man with an X-linked recessive disorder will pass his unaffected Y chromosome to his sons, and none will be affected. He will pass his X chromosome (with the abnormal gene) to his daughters, and all will be carriers of the disease.
Sickle Cell Anemia
Sickle cell anemia is a g____ hemo___ anemia (autosomal recessive). It takes many forms, ranging from sickle cell trait to various forms of full-blown disease.
In the United States, it is most commonly found in
- _____ Americans (1 in 500 have the disease and more than 2 million carry the trait).
- Higher prevalence in people from A___, the M______, the _____ East, and some areas of In____.
- Mean hemoglobin of about ___ g/dL and a _______ RBC life span (17 vs. 120 days).
Sickle cell anemia is a genetic hemolytic anemia (autosomal recessive). It takes many forms, ranging from sickle cell trait to various forms of full-blown disease.
In the United States, it is most commonly found in
- African Americans (1 in 500 have the disease and more than 2 million carry the trait).
- Higher prevalence in people from Africa, the Mediterranean, the Middle East, and some areas of India.
- Mean hemoglobin of about 8 g/dL and a shortened RBC life span (17 vs. 120 days).
Sickle Cell Anemia Risks
Persons with sickle cell anemia have an increased resistance to
- ______ infection (Plasmodium falciparum from mosquito bite).
Higher risk of death from infection with
- encapsulated _____ (e.g., Streptococcus pneumoniae, Haemophilus influenzae) due to hypo_____.
Patients with ___ectomy (for other causes) are also at higher risk of death. Median life expectancy is __ years for males, __ years for females.
Persons with sickle cell anemia have an increased resistance to
- malarial infection (Plasmodium falciparum from mosquito bite).
Higher risk of death from infection with
- encapsulated bacteria (e.g., Streptococcus pneumoniae, Haemophilus influenzae) due to hyposplenia.
Patients with splenectomy (for other causes) are also at higher risk of death. Median life expectancy is 42 years for males, 48 years for females.
Sickle Cell Anemia
Hemoglobin electrophoresis: 80% to 100% Hb__, elevated Hb__ (no Hb__)
Hemoglobin electrophoresis: 80% to 100% HbS, elevated HbF (no HbA)
Classic Case of Sickle Cell Anemia
Most patients with sickle cell trait are _____.
Patients who have the full-blown sickle cell disease (SCD) are extremely anemic, have frequent sickling episodes, and have ____ful crises (of affected organ systems). Signs and symptoms include ischemic n_____ of bones or skin, renal and/or liver dysfunction, pria____, hemolytic episodes, h____splenism, and frequent in_____.
Most patients with sickle cell trait are asymptomatic.
Patients who have the full-blown sickle cell disease (SCD) are extremely anemic, have frequent sickling episodes, and have painful crises (of affected organ systems). Signs and symptoms include ischemic necrosis of bones or skin, renal and/or liver dysfunction, priapism, hemolytic episodes, hyposplenism, and frequent infections.
Sickle Cell Anemia Labs
Screening test (for all anemias) =
Gold standard test =
CBC is the screening test (for all types of anemia)
Gold-standard test is hemoglobin electrophoresis (HbS)
Sickle Cell Anemia Treatment Plan
Sickle cell is an autosomal ______ pattern genetic disease.
G______ counseling is needed if both partners are at risk.
If each parent has the sickle cell trait, one child out of ____ will have the disease.
Prenatal screening is available as early as 8 to 10 weeks’ gestation via (1) sampling or (1).
Sickle cell is an autosomal recessive pattern genetic disease.
Genetic counseling is needed if both partners are at risk.
If each parent has the sickle cell trait, one child out of four (25%) will have the disease.
Prenatal screening is available as early as 8 to 10 weeks’ gestation via chorionic villus sampling or amniocentesis.
Sickle Cell Anemia Treatment Plan
Patients with family history of sickle disease or trait, patients with signs and symptoms suggestive of SCD (aseptic _____of the femoral head, unexplained bone pain, hemolysis), or Black patients with ____cytic anemia should be screened with peripheral _____, hemoglobin (Hb) _____ testing, and hemoglobin _______. Patients with SCD are managed by _______.
Patients with family history of sickle disease or trait, patients with signs and symptoms suggestive of SCD (aseptic necrosis of the femoral head, unexplained bone pain, hemolysis), or Black patients with normocytic anemia should be screened with peripheral smear, hemoglobin (Hb) solubility testing, and hemoglobin electrophoresis. Patients with SCD are managed by hematologists.
Exam Tips
If a patient has anemia with MCV 76 fL, the next step is to order (3)
- If ferritin/iron levels are low, the patient has iron deficiency, but if these tests are normal, the patient probably has _______ trait.
Order both (2) when evaluating MCV >100 fL (even if no neurologic symptoms).
_____ background may not be mentioned in a thalassemia problem, or it may be a distractor.
Only vitamin B12–deficiency anemia has _____ symptoms (2)
If a patient has anemia with MCV 76 fL, the next step is to order TIBC, ferritin, and serum iron.
- If ferritin/iron levels are low, the patient has iron deficiency, but if these tests are normal, the patient probably has thalassemia trait.
Order both vitamin B12 and folate levels when evaluating MCV >100 fL (even if no neurologic symptoms).
Ethnic background may not be mentioned in a thalassemia problem, or it may be a distractor.
Only vitamin B12–deficiency anemia has neurologic symptoms (tingling, numbness).
Exam Tips
Pernicious anemia results in (1) deficiency.
Pernicious anemia is a ____cytic anemia.
RBC size is described in many ways, such as:
- MCV ___ fL: Microcytic and hypochromic RBCs, small and pale RBCs
- MCV ___ fL: Macrocytes or macro-ovalocytes, larger than normal RBCs, or RBCs with enlarged cytoplasms
Pernicious anemia results in vitamin B12 deficiency.
Pernicious anemia is a macrocytic anemia.
RBC size is described in many ways, such as:
- MCV <80 fL: Microcytic and hypochromic RBCs, small and pale RBCs
- MCV >100 fL: Macrocytes or macro-ovalocytes, larger than normal RBCs, or RBCs with enlarged cytoplasms
Exam Tips
Learn food groups for both folate and vitamin B12.
Folate foods =
Vitamin B12 foods =
Folate foods = Leafy green vegetables (kale, collard greens), grains, beans, liver
Vitamin B12 foods = all animal products - (meat, poultry, eggs, milk, cheese)
Summary: Microcytic Anemias
IRON-DEFICIENCY ANEMIA VERSUS THALASSEMIA TRAIT
Ferritin Level
- Iron deficiency =
- Thalassemia trait =
Serum Iron
- Iron deficiency =
- Thalassemia trait =
TIBC
- Iron deficiency =
- Thalassemia trait =
MCHC
- A measure of RBC ____
- Iron deficiency =
- Thalassemia =
Ferritin Level
- Low in iron deficiency
- Normal in thalassemia trait
Serum Iron
- Decreased in iron deficiency
- Normal in thalassemia trait
TIBC
- Elevated in iron deficiency
- Normal in thalassemia trait
MCHC
- A measure of RBC color
- Decreased in iron deficiency
- Normal in thalassemia
Summary: Microcytic Anemias
IRON-DEFICIENCY ANEMIA VERSUS THALASSEMIA TRAIT
Hemoglobin Electrophoresis
- ____ in iron deficiency
- Abnormal in ___ thalassemia
Ethnic Background
- Ethnicity or age does not matter in (1) Anemmia.
- IDA is the most common anemia _____ in any age group, gender, or ethnicity.
- Thalassemia is seen in people from Southeast ____ (e.g., China), the M______ (e.g., Italy), North ____ (e.g., Morocco), the _______ (e.g., Libya), and Asia (e.g., In____).
- _____ -thalassemia is more common in Asians.
Hemoglobin Electrophoresis
- Normal in iron deficiency
- Abnormal in beta thalassemia
Ethnic Background
- Ethnicity or age does not matter in IDA.
- IDA is the most common anemia overall in any age group, gender, or ethnicity.
- Thalassemia is seen in people from Southeast Asia (e.g., China), the Mediterranean (e.g., Italy), North Africa (e.g., Morocco), the Middle East (e.g., Libya), and Asia (e.g., India).
- Alpha-thalassemia is more common in Asians.
