Thalassemia Intermedia

Although patients are homozygous or doubly heterozygous, the resultant anemia is milder than in thalassemia major.

Clinical Features

1. Patients generally do not require transfusions and maintain a hemoglobin between 7 and 10 g/dL.

2. Marked medullary expansion, hepatosplenomegaly, growth retardation, facial anomalies, and hyperbilirubinemia occur if patients are not adequately transfused.

3. Patients are most healthy if management is as vigorous as that for thalassemia major.

Management

1. Folic acid 1 mg/day PO should be administered.

2. Meats, particularly those rich in iron (e.g., liver and beef), and iron-supplemented cereals should be avoided. A cup of tea with every meal will reduce the absorption of nonheme iron.

3. Chelation therapy is required at an older age than in thalassemia major because patients have received fewer transfusions. It should be started when the serum ferritin level has risen to more than 1000 ng/mL and the desferrioxamine challenge produces sufficient urine iron excretion.

4. Transfusions generally are not required except during periods of erythro-blastopenia (aplastic crises) or during acute infection. If hemoglobin falls below 7 g/dL, transfusion therapy should be initiated. Thalassemia intermedia patients who are inadequately transfused show the most extreme bony abnormalities (worse than adequately transfused thalassemia major patients).

5. Splenectomy may be required.

6. Cardiac and endocrine evaluation and bone densitometry should be performed as in thalassemia major.

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