Red Blood Cell Disorders 1

Question 1

What three things are affected primarily by hematopoietic and lymphoid disorders?

Answer 1

1 RBCs (erythrocytes)
2 WBCs (leukocytes)
3 hemostasis (thrombocytes)

Question 2

What is hematopoiesis?

Answer 2

Formation and development of blood cells, hematology

Question 3

What is the location of hematopoiesis in children?

Answer 3

Marrow of long bones (tibia and femur)

Question 4

Where does hematopoiesis occur in adults?

Answer 4

Pelvis, cranium, vertebral bodies, sternum, ribs

Question 5

What is the location of extramedullary hematopoiesis?

Answer 5

Spleen, liver, lymph nodes, thymus

Question 6

What is the clinical term for rupture of erythrocytes?

Answer 6

Hemolysis

Question 7

What is released during hemolysis?

Answer 7

Hemoglobin (Hb)

Question 8

What is the clinical term for erythrocyte production?

Answer 8

Erythropoiesis

Question 9

What is the term for an immature RBC?

Answer 9

Reticulocyte

Question 10

Reticulocytes make up what percentage of overall red blood cells?

Answer 10

1-3%

Question 11

What can you assume with a patient who has reticulocytopenia?

Answer 11

Marrow failure (decreased circulating reticulocytes)

Question 12

When do reticulocytes mature?

Answer 12

After 1 day in circulation

Question 13

What is the clinical term for the condition involved increased RBC count?

Answer 13

Polycythemia (rare)

Question 14

What is the prevalence of anemia in the US?

Answer 14

4% of men

8% of women

Question 15

What is the clinical term for the condition involving decreased RBC mass and decreased O2 capacity?

Answer 15

Anemia

Question 16

What are the three main causes of anemia?

Answer 16

1 blood loss (hemorrhage)
2 increased RBC destruction (hemolysis)
3 decreased RBC production (marrow failure)

Question 17

What effect does anemia have on body tissue?

Answer 17

Hypoxia (decreased O2 supply)

Question 18

During anemia, which organ increases its production of erythrocytes?

Answer 18

Kidneys (renal fibroblasts release more erythropoietin)

Question 19

What are the signs and symptoms of anemia?

Answer 19

Pallor, fatigue, weakness (lassitude), decreased growth, osseous abnormalities, cachexia

Question 20

Why does jaundice appear in severe cases of anemia?

Answer 20

Hemolysis leads to release of hemoglobin leading to a buildup of bilirubin from the breakdown of heme causing jaundice/gallstones

Question 21

What is the appearance of RBCs with hemorrhagic anemia?

Answer 21

Normocytic, normochromic

Question 22

What mineral is needed for hemoglobin synthesis?

Answer 22

Iron

Question 23

What effect does chronic blood loss have on iron stores?

Answer 23

Decreases it

Question 24

What are the effects of hemolytic anemia on the body?

Answer 24

1 decreased RBC life span (120 days)
2 increased erythropoiesis, extra medullary hematopoiesis, and reticulocytes (up to 8% of blood)
3 retention of RBC debris (iron)

Question 25

What are the two categories of the effects of hemolytic anemias?

Answer 25

1 intracorpuscular defects | 2 extracorpuscular defects

Question 26

Which type of hemolytic anemia is hereditary? Which is acquired?

Answer 26

``` Hereditary = intracorpuscular defects Acquired = extracorpuscular defects ```

Question 27

How do intracorpuscular defects associated with hemolytic anemia affect RBCs?

Answer 27

Enzyme deficiency and disordered hemoglobin synthesis

Question 28

What things can cause extracorpuscular defects associated with hemolytic anemia?

Answer 28

Antibodies, RBC trauma, infections (like malaria)

Question 29

What is a corpuscle in vascular terminology?

Answer 29

Free floating cell

Question 30

What condition is most likely present if reticulocytes make up 8% of the overall blood?

Answer 30

Hemolytic anemia (due to increased erythropoiesis)

Question 31

What are the two ways in which hemolysis can occur with hemolytic anemia?

Answer 31

Intravascular or extravascular

Question 32

What is the most common way in which hemolysis can occur with hemolytic anemia?

Answer 32

Extravascular hemolysis

Question 33

How does intravascular hemolysis occur?

Answer 33

Trauma to RBC membrane

Question 34

How does extravascular hemolysis occur?

Answer 34

Macrophages attacking spleen/liver leading to RBC damage and antibody opsonization

Question 35

What is the characteristic sign of intravascular hemolysis?

Answer 35

Hemoglobin in urine (hemosiderinuria)

Question 36

What is hemosiderinuria?

Answer 36

Dark urine due to presence of hemoglobin

Question 37

What are the signs of extravascular hemolysis?

Answer 37

Splenomegaly and jaundice

Question 38

What is the general term for an abnormally shaped RBC?

Answer 38

Poikilocyte

Question 39

What is the term for an irregularly shaped RBC post-hemolysis?

Answer 39

Schistocyte

Question 40

What is the term for a teardrop-shaped RBC?

Answer 40

Dacrocyte

Question 41

What kind of defect is associated with hereditary spherocytosis?

Answer 41

Intracorpuscular

Question 42

What is the specific damage involved to the RBC with hereditary spherocytosis?

Answer 42

Abnormal RBC membrane (increased fragility)

Question 43

Why is there a decreased life span associated with the RBCs during hereditary spherocytosis?

Answer 43

Removed by spleen

Question 44

What is the treatment for hereditary spherocytosis?

Answer 44

Partial splenectomy

Question 45

What type of inheritance pattern is involved with hereditary spherocytosis?

Answer 45

Autosomal dominant

Question 46

What is the appearance of the RBCs in hereditary spherocytosis?

Answer 46

Spherical (spherocytes) and less elastic in nature

Question 47

What particular infection can cause severe aplastic crisis with hereditary spherocytosis?

Answer 47

Parvovirus B19 (Fifth disease)

Question 48

Spherocytes lack what appearance seen in normal RBCs?

Answer 48

Central pallor

Question 49

What type of inheritance pattern is involved with sickle cell anemia?****

Answer 49

Autosomal recessive: beta-globin****

Question 50

What type of anemia is caused by hereditary spherocytosis, sickle cell disease, thalassemia, glucose-6-phosphate dehydrogenase deficiency, paroxysmal nocturnal hemoglobinuria, immunohemolytic anemias, trauma, and malaria?

Answer 50

Hemolytic

Question 51

8% of what race are heterozygous "carriers" for sickle cell disease?

Answer 51

African Americans

Question 52

What ratio of African Americans are homozygous and HAVE sickle cell disease?

Answer 52

1:600

Question 53

What specifically causes the sickling of the RBCs seen in sickle cell disease?

Answer 53

Decreased O2 due to microvascular thrombosis

Question 54

Sickle cell formation is common in what kind of areas of the body?

Answer 54

Areas of stasis

Question 55

What are the signs and symptoms of sickle cell diseases?

Answer 55

Thrombosis, chronic low-level pain, joint pain, priapism, fever, malaise, splenomegaly/infarction, gallstones, decreased growth and osseous distortion

Question 56

What is the acute chest syndrome seen with sickle cell disease?

Answer 56

Lung infections/PE due to pulmonary vascular obstruction from reduced O2 causing thrombosis

Question 57

Why are infection and septicemia common among those with sickle cell disease?

Answer 57

Patients are functionally asplenic

Question 58

What are four complications seen with sickle cell anemia?

Answer 58

1 acute chest syndrome 2 stroke (cerebrovascular obstruction) 3 infection/septicemia 4 hypoxia-inducted fatty changes (from stress)

Question 59

What are the locations of hypoxia-induced fatty changes seen with sickle cells disease?

Answer 59

Heart, kidneys, liver

Question 60

Are heterozygous "carriers" of sickle cell disease symptomatic?

Answer 60

Rarely

Question 61

What is the prognosis for those homozygous for sickle cell anemia?

Answer 61

50% survive beyond 5th decade

Question 62

What are the two most common causes of death in those with sickle cell disease?

Answer 62

Acute chest syndrome or stroke

Question 63

What is the most common location of congestion/infarction in sickle cell patients?

Answer 63

Bone marrow (can also occur in spleen, liver, kidneys, retina, brain, lungs, or skin)

Question 64

What sign on X-ray is associated with sickle cell anemia?

Answer 64

Lincoln log vertebra (H-shaped vertebral bodies due to central depression and microvascular endplate infarctions)

Question 65

Do all sickle cell anemia patients present with Lincoln log vertebra?

Answer 65

No, only 10%

Question 66

What type of inheritance pattern is involved with thalassemia?

Answer 66

Autosomal recessive

Question 67

What is the appearance of red blood cells with thalassemia?

Answer 67

Microcytic and hypochromic

Question 68

What is thalassemia?

Answer 68

Abnormal hemoglobin production

Question 69

In what areas of the world do we see a lot of thalassemia?

Answer 69

Areas of endemic malaria like Africa or southeastern Asia

Question 70

What are the two types of thalassemia?

Answer 70

Beta (chromosome 11) or alpha (chromosome 16)

Question 71

In beta-thalassemia, which globin genes are mutated, and what is the result?

Answer 71

Beta; excess alpha-globin

Question 72

In alpha-thalassemia, which globin genes are mutated, and what is the result?

Answer 72

Alpha; excess beta-globin

Question 73

What structures are damaged by thalassemia?

Answer 73

RBCs (hemolysis) and erythroblasts

Question 74

What are the differences between beta-thalassemia minor and major?

Answer 74

``` Minor = involves 1 allele and is very mild Major = involves 2 alleles and leads to sever hemolysis/anemia ```

Question 75

What condition is also known as beta-thalassemia trait"?

Answer 75

Beta-thalassemia minor

Question 76

What is the appearance of RBCs with beta-thalassemia trait?

Answer 76

Microcytic and hypochromic (due to decreased hemoglobin formation)

Question 77

Which form of thalassemia does not affect the lifespan of the RBCs?

Answer 77

Beta-thalassemia minor

Question 78

How is beta-thalassemia minor diagnosed?

Answer 78

Electrophoresis

Question 79

What is the treatment for beta-thalassemia minor?

Answer 79

Monitoring serum ferritin and occasional transfusions with iron chelation (to remove excess)

Question 80

What is the treatment for beta-thalassemia major?

Answer 80

Repeated transfusions and iron chelation

Question 81

What benefit does treatment for beta-thalassemia major have?

Answer 81

Extends survival into 20s and decreases symptoms and deformities

Question 82

What is the eventual cause of death of beta-thalassemia major?

Answer 82

Lethal cardiomyopathy from hemochromatosis (iron overload)

Question 83

What may possibly cure beta-thalassemia major?

Answer 83

Bone marrow transplant

Question 84

What unique X-ray signs may be seen in those with beta-thalassemia major?

Answer 84

"Hair on end" appearance of the skull, lace-like appearance in bones of the hand

Question 85

Which form of thalassemia is less damaging: beta or alpha-thalassemia?

Answer 85

Alpha-thalassemia (excess beta-globin is less worse)

Question 86

Why is alpha-thalassemia highly variable in nature?

Answer 86

4 total alpha-globin genes that could be affected

Question 87

What condition results from only 1 alpha-globin gene being affected? 2, 3, or all 4?

Answer 87

``` 1 = silent carrier and asymptomatic 2 = alpha-thalassemia trait and asymptomatic 3 = HbH disease which is severe 4 = hydrous fetalis which is lethal in utero without transfusions ```

Question 88

Alpha-thalassemia trait is similar to which beta-thalassemia condition?

Answer 88

Beta-thalassemia minor

Question 89

HbH disease resembles what beta-thalassemia condition?

Answer 89

Beta-thalassemia intermedia