Hereditary Anemias

Question 1

What is the most effective disease-modifying drug available for SCD?

Answer 1

• Hydroxyurea

* increases HbF*

Question 2

All hereditary anemias will lead to what?

Answer 2

• hemolysis

Question 3

What mutation causes sickle cell disease?

Answer 3

point mutation at codon 6 in Hgb B chain converting glutamic acid to valine

Question 4

HbSS is clinically diagnosed with what test?

Answer 4

Hgb electrophoresis

Question 5

How is thalassemia screened? How is it confirmed?

Answer 5

• Hgb electrophoresis to screen

- Hgb genetic analysis to confirm

Question 6

What values are seen in Hgb and reticulocyte count with sickle cell disease?

Answer 6

• Hgb = 6-10

- Reticulocyte count = 15-40%

Question 7

What is the most common genetic disorder among african americans?

Answer 7

• sickle cell disease

Question 8

Thalassemia are a group of disorders associated with a reduction in what?

Answer 8

• Hgb chain production

Question 9

What is the major adult Hgb type?

Answer 9

HbA: alpha 2 beta 2

Question 10

If a patient with HbSS presents with acute chest syndrome what is the treatment of choice?

Answer 10

• exchange transfusion

Question 11

As a result of increased iron absorption and regular RBC transfusion, Thalassemia patients can develop this condition by the second decade of life.

Answer 11

secondary hemosiderosis

unless chelated

Question 12

Bite and blister cells are consistent with what disorder?

Answer 12

G6PD Deficiency

Question 13

What is the most common enzyme deficiency in the world?

Answer 13

• glucose-6-phosphate dehydrogenase deficiency

Question 14

Patients who have SCD and a functional asplenia for greater than 6 years are at an increased risk of death from what?

Answer 14

• overwhelming sepsis (encapsulated organisms)

Question 15

Heinz bodies are consistent with what disorder?

Answer 15

G6PD Deficiency

Question 16

If you suspect someone has G6PD when should a G6PD enzyme assay be done for diagnosis?

Answer 16

• 6-8 weeks after hemolysis occurs

Question 17

How is hereditary spherocytosis treated?

Answer 17

• splenectomy

Question 18

Normocytic hyperchromic anemia is concerning for what disorder?

Answer 18

• hereditary spherocytosis

Question 19

Supplementation with this mineral is important for patients with SCD.

Answer 19

• folate

Question 20

What genetic inheritance pattern is seen in sickle cell disease?

Answer 20

• autosomal recessive

Question 21

This is an autosomal dominant hereditary RBC cytoskeletal defect in any of the cytoskeletal proteins.

Answer 21

• Hereditary spherocytosis

Question 22

Thalassemia presents as what type of anemia?

Answer 22

-microcytic, hypochromic anemia

Question 23

What is considered a “normal” hemoglobin genotype?

Answer 23

• HbAA

Question 24

What finding on electrophoresis is consistent with Beta Thalassemia?

Answer 24

• HbA2 will be elevated