Hemoglobinopathies

Question 1

Etiology of Sickle Cell Anemia?

Answer 1

Mutaiton of beta-globulin chain

Val–>Glu

Question 2

Cause of the change of MCHC in Sickle

Answer 2

Sickled cells lose potassium and water, gain calcium

Dehydration raises it

Question 3

Average RBC survival in sickle cell

Answer 3

20 days

Question 4

Important pathologic findings in sickle cell

Answer 4

Hemolysis –> Bilirubin up, Iron Overload
Capillary Stasis
Ischemia –> Fatty Change (Heart, Liver, Tubules)
Hyperplastic Marrow, Extra Medullary + Crew Haircut

Question 5

Talk through the deal with sickle cell folks and the spleen

Answer 5

Autosplenectomy by age 5

thrombosis and infarction, tissue hypoxia+scarring

Question 6

Most common causes of death in sickle kids

Answer 6

Septicemia and Meningitis

Question 7

Most important clinical features of sickle

Answer 7

1. Anemia
2. Vasooclusion
3. Chronic Hyperbilirubinemia
4. Infections

Question 8

Beta gene (beta thal) is n chromosome…

Answer 8

11

Question 9

beta Thalassemia major is…

Answer 9

Homo loss of normal beta

Question 10

beta Thalassemia minor is…

Answer 10

hetero loss of normal beta

Question 11

beta Thalassemia intermedia is…

Answer 11

intermediate levels of gene fxn remain

Question 12

Pathogenesis of beta Thalassemia

Answer 12

decreased hemoglobin + aggregation of remaining from the imbalance

Question 13

What happens molecularly to RBCs with thall.

Answer 13

Altered gene expresion leads to cell membrane damage
This causes loss of K and impaired DNA synthesis
Loss of RBC precursors in marrow
Surviving cells have precip. and are removed in spleen

Question 14

Pathology of beta Thalassemia

Answer 14

Expansion of the red marrow, thickened cortical bone
Splenomegaly + Hepatomegaly + Extramedullary
Hemosiderosis from inc. absorption + transfusions

Question 15

Clinical features of beta Thalassemia Major

Answer 15

Severe after 6 months (no more HbF)
High HbF levels
small, colorless RBCs
Ineffective erythropoesis

Question 16

Clinical features of beta Thalassemia minor

Answer 16

Usually asymptomatic
Small, low color cells.
Basophilic Stippling, target cells
High HbA2

Question 17

alpha genes are on chromo

Answer 17

16

Question 18

alpha Thalassemia silent carrier =

Answer 18

1 mutant, 3 normals

Question 19

alpha Thalassemia trait =

Answer 19

2 mutant, 2 normal

Question 20

Hemoglobin H disease =

Answer 20

3 mutant, 1 normal

BETA TETRAMERS

Question 21

Hydrops fetalis =

Answer 21

no normal alpha Thalassemia genes
Intrauterine death
Barts

Question 22

What are heinz bodies?

Answer 22

precipitated hemoglobin