Heme

Question 1

What is a normal reticulocyte count?

Answer 1

0.5% to 1.5%

Question 2

What is physiologic anemia of infancy?

Answer 2

Term infants Hgb nadir 9 to 11 g/dL at 8 to 12 weeks of age
Preterm infants nadir 7 to 9 g/dL at 4 to 6 weeks of age

Question 3

What are general symptoms of anemia

Answer 3

Weakness, fatigue, decreased exercises tolerance

Question 4

Patient has darkening of urine, family history of jaundice or FH of splenectomy, early onset-gallstones

Answer 4

May suggest hemolytic anemia

Question 5

Physical exam findings of anemia include

Answer 5

Pallor, tachycardia, flow murmur, if prolonged can see signs of heart failure

Question 6

Physical exam findings that may suggest hemolytic anemia

Answer 6

Scleral icterus, jaundiced skin, splenomegaly

Question 7

Laboratory studies in microcytic anemia: iron deficiency anemia

Answer 7

Hgb ↓, MCV ↓, RDW ↑, RBC ↓, Serum ferritin ↓, TIBC ↑, transferrin saturation ↓

Question 8

Lab studies microcytic anemia: thalassemia

Answer 8

Hgb ↓, MCV ↓, RDW wnl, RBC wnl/↑, Serum ferritin wnl, TIBC wnl, transferrin saturation wnl

Question 9

Lab studies microcytic anemia: anemia of chronic disease

Answer 9

Hgb ↓, MCV wnl/↓, RDW wnl/↑, RBC wnl/↓, Serum ferritin ↑, TIBC ↓, Transferrin saturation ↓

Question 10

Patient’s labs: Hgb ↓, MCV ↓, RDW ↑, RBC ↓, Serum ferritin ↓, TIBC ↑, Transferrin saturation ↓

Answer 10

Iron deficiency anemia

Question 11

Patient’s labs: Hgb ↓, MCV ↓, RDW wnl, RBC wnl/↑, Serum ferritin wnl, TIBC wnl, Transferrin saturation wnl

Answer 11

Thalassemia

Question 12

Patient’s labs: Hgb ↓, MCV wnl/↓, RDW wnl/↑, RBC wnl/↓, Serum ferritin ↑, TIBC ↓, Transferrin saturation ↓

Answer 12

Anemia of chronic disease

Question 13

1-3 y/o toddler drinking > 24 oz/day of cow’s milk presents with fatigue; patient’s parent notes the patient appears more pale than normal. PE shows pallor, tachycardia, flow murmur, koilonychia. What is the most likely diagnosis?

Answer 13

Iron deficiency anemia

Question 14

Mentzer index calculation

Answer 14

MCV/RBC

Question 15

Mentzer index = MCV/RBC and is >13 which suggests?

Answer 15

Iron deficiency anemia

Question 16

Mentzer index = MCV/RBC and is <13 which suggests?

Answer 16

Thalassemia

Question 17

15 y/o F presenting with feeling tired, menorrhagia. PE: pallor, tachycardia, flow murmur, koilonychia. What is the most likely diagnosis?

Answer 17

Iron deficiency anemia; microcytic anemia

Question 18

Effects of lead poisoning

Answer 18

Neuro: decreased IQ, changes in behavior, seizures, encephalopathy
Renal: aminoaciduria, glycosuria, chronic interstitial nephritis
GI: intermittent abdominal pain, emesis, constipation

Question 19

Patient has microcytic anemia with high reticulocyte. On physical exam, there is frontal bossing, short limbs, HSM. Mentzer index (MCV/RBC) < 13. What is the most likely diagnosis?

Answer 19

Thalassemia

Question 20

24 month old infant presenting with anemia following viral illness. MCV wnl, low/inadequate reticulocytes. What is the most likely diagnosis?

Answer 20

Transient Erythoblastopenia of childhood

Question 21

Patient has anemia, pallor, jaundice, fatigue, splenomegaly. MCV wnl, high reticulocytes, increased mean corpuscular Hgb concentration (MCHC). RBC show decreased central pallor on blood smear. What is the most likely diagnosis? What is the inheritance pattern?

Answer 21

Hereditary spherocytosis
Autosomal dominant, less commonly autosomal recessive
Most common among persons of Northern European origin

Question 22

Patient has anemia, pallor, jaundice, fatigue, splenomegaly, MCV wnl, high mean corpuscular Hgb concentration (MCHC).
RBC show oval or pencil shaped on smear. What is the most likely diagnosis? What is the inheritance pattern

Answer 22

Hereditary elliptocytosis
Autosomal dominant
More common among West Africans

Question 23

Agents that can precipitate hemolysis in G6PD deficiency

Answer 23

Antimicrobials: sulfonamides, dapsone, nitrofurantoin, primaquine and chloroquine
Other meds: methylene blue, probenecid, ASA
Chemicals: benzene, naphthalene
Illness: DKA, hepatitis, sepsis

Question 24

G6PD deficiency genetics and epidemiology

Answer 24

X-linked
Americans of African descent
Americans of Mediterranean descent

Question 25

G6PD deficiency: darkening of urine, FH of jaundice, scleral icterus, jaundice, splenomegaly. Lab findings hemolysis: indirect hyperbilirubinemia, decreased haptoglobin, increased LDH, increased transaminase (AST). Dx and tx

Answer 25

Dx: test G6PD activity a few weeks after hemolytic episode
To: discontinue any oxidant agent; may require pRBC transfusion

Question 26

Patient found to have sickle cell anemia will experience functional asplenia when?

Answer 26

As early as 6 months and occurs by 5 y/o

Question 27

Patient with sickle cell anemia has increased risk of which kind of infection

Answer 27

Osteomyelitis most common organism is Staph aureus but Salmonella increased incidence compared to general population

Question 28

Sickle Cell Anemia lung disease

Answer 28

Acute chest syndrome: radiographic evidence of new consolidation PLUS at least one of the following: fever, hypoxia, tachypnea, increased WOB, chest pain, wheezing, new cough
Risk of developing pHTN

Question 29

Sickle cell anemia infectious ppx

Answer 29

Vaccines per schedule PLUS 23-valent pneumococcal vaccine at 2 and 5 y/o
Meningococcal ACWY at 2 y/o
Men B vaccine starting at 10 y/o
PCN ppx until at least 5 y/o

Question 30

Sickle cell anemia stroke ppx

Answer 30

Transcranial Doppler every 12 to 18 months from 2 to 16 y/o

Question 31

Sickle cell anemia ppx against other complications

Answer 31

Hydroxyurea increases HgbF concentration
Decreases rate of vasooclusive pain crises, rate of acute chest syndrome, lowers risk of stroke

Question 32

Patient has anemia, thrombocytopenia, renal failure. Presence of shistocytes on peripheral smear. Most likely diagnosis

Answer 32

Hemolytic uremic syndrome most commonly due to Shiga toxins from E. Coli O157:H7 and O104:H4

Question 33

Patient presents with anemia, thrombocytopenia, renal failure, neurologic symptoms, and fever. Presence of shistocytes on peripheral smear. Most likely dx

Answer 33

Thrombotic thrombocytopenic purpura (TTP)
Severe deficiency of ADAMTS13 metalloproteasr

Question 34

Patient has anemia, thrombocytopenia, renal failure. Presence of shistocytes on peripheral smear. Most likely diagnosis And tx

Answer 34

HUS
Tx: avoid tx with abx; supportive care with IVF, transfusions PRN, temporary dialysis if severe renal issues
Atypical HUS anticomplement therapy with eculizumab

Question 35

Patient presents with anemia, thrombocytopenia, renal failure, neurologic symptoms, and fever. Presence of shistocytes on peripheral smear. Most likely dx and tx

Answer 35

TTP; tx with plasmapheresis

Question 36

Pallor within 2-6 months of age; craniofacial abnormalities such as hypertolerism and thumb abnormalities. Microcytic anemia with reticulocytopenia; no hypersegmented neutrophils. Elevated HgbF, “i” antigen. Most likely dx and pathophysiology

Answer 36

Diamond Blackfan Anemia
Defect in erythroid progenitor cell, leading to increased apoptosis
Generally autosomal dominant inheritance pattern

Question 37

2-6 month old infant with hypertolerism and thumb abnormalities. Microcytic anemia with reticulocytopenia no hypersegmented neutrophils. Elevated HgbF, “i” antigen.Dx and tx

Answer 37

Diamond Blackfan anemia
Corticosteroids
No response to corticosteroids, pRBC transfusions at 1- to 2-month intervals
Chelation therapy needed as excess iron accumulates
Bone marrow transplant if HLA-matches siblings donor available

Question 38

Hemophilia lab findings

Answer 38

PT wnl, PTT ↑, PLT normal
Hemophilia A low factor 8
Hemophilia B low factor 9

Question 39

vWD lab findings

Answer 39

PT wnl, PTT slightly increased, wnl, vWD type 2B associated with low PLT count

Question 40

Vitamin K deficiency or liver dysfunction lab findings

Answer 40

PT ↑, PTT increased in late dysfunction, slightly increased in early deficiency/dysfunction, PLT count wnl
Warfarin is a vitamin K antagonist so causes elevated PT/INR as well and is used for anticoagulation

Question 41

Thrombocytopenia lab findings

Answer 41

PT wnl, PTT wnl, PLT count ↓

Question 42

Platelet function defect lab findings

Answer 42

PT wnl, PTT wnl, PLT count wnl/↓

Question 43

Patient has immunodeficiency, eczema, and microthrombocytopenia. Most likely dx and genetics

Answer 43

Wiskott-Aldrich Syndrome (WAS)
X-linked disorder with a mutation in the WAS protein