Internal Medicine

0521779407-20 CUNY1086/Karliner 0 521 77940 7 June 4, 2007 21:22

1416 Thalassemia

Recommended Tests for Beta Thalassemia Major/Intermedia:

■Extended panel RBC typing to minimize alloantibodies following

transfusion

■Echocardiogram and EKG

differential diagnosis

■Iron deficiency vs. alpha or beta thalassemia trait:

➣Distinguish with iron, total iron-binding capacity (TIBC) and fer-

ritin (generally normal in thalassemia trait)

➣Mentzer index (MCV/RBC):

>13 iron deficiency

<13 thalassemia trait

➣Hemoglobin electrophoresis (elevations in Hb A 2 and Hb F may

be masked if iron deficiency occurs concurrently with beta tha-

lassemia)

➣Parental CBC, MCV, and blood smears

■Hb E: common in Southeast Asian populations

■diagnosis by hemoglobin electrophoresis

management

■Routine health maintenance

➣Anticipatory testing

➣Monitor growth, development

➣Hepatitis B vaccination

➣Alpha thalassemia trait (1 or 2 gene deletion) or beta thalassemia

trait: no treatment. Genetic counseling. Avoid inappropriate iron

supplementation (increased gastrointestinal iron absorption).

➣Hb H disease: avoidance of oxidant drugs, splenectomy for severe

anemia, judicious use of transfusion therapy.

specific therapy

Chronic Transfusion Therapy

■Goal:

➣promote normal growth and development

➣Promote normal activity

➣Suppress extramedullary hematopoiesis

Complications:

■Iron overload

➣Use minimum required red cell transfusions