Thalassemia

Question 1

Incidence of thalassemia

Answer 1

Found mainly in Mediterranean, African, Middle Eastern, Indian, and *Asian populations

Question 2

Signs and symptoms of thalassemia

Answer 2

General physical findings are unremarkable unless the form of thalassemia is severe

Question 3

What is the most familiar type of thalassemia

Answer 3

Beta thalassemia

Question 4

Etiology of thalassemia

Answer 4

Decrease production of normal adult hemoglobin A

Question 5

Thalassemia minor

Answer 5

Heterozygous for beta thalassemia

Have only mild anemia, may mimic iron deficiency anemia

Question 6

Thalassemia major

Cooley’s anemia

Answer 6

Homozygous for beta thalassemia

Normal presentation at birth due to productive effects of fetal hemoglobin
Anemia develops within a few months of life and becomes progressively severe

Question 7

Lab in Diagnostics for thalassemia

Answer 7

• normal TIBC
• normal ferritin
• decreased alpha or beta hemoglobin chains
  Decreased HGB, MCV , MCHC

Question 8

Management for thalassemia

Answer 8

No treatment for mild to moderate forms
RBC transfusion/splenectomy for severe forms
Iron is contraindicated as iron overload can result
Prenatal genetic testing if desired