Alpha Thalassemia

Alpha Thalassemia – Treatment Overview

Introduction
Alpha thalassemia is an inherited blood disorder caused by deletions or mutations in one or more of the four alpha-globin genes responsible for producing hemoglobin. The severity depends on the number of affected genes:

• Silent carrier (1 gene deletion): No symptoms.

• Alpha thalassemia trait/minor (2 deletions): Mild microcytic anemia.

• Hemoglobin H disease (3 deletions): Moderate to severe anemia with splenomegaly and other complications.

• Hydrops fetalis (4 deletions): Usually incompatible with life.

Management focuses on treating anemia, preventing complications, and improving quality of life, with intensity of therapy guided by disease severity.

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Treatment Options and Doses

1. Silent Carrier & Alpha Thalassemia Trait

• Usually no treatment required.

• Genetic counseling recommended, especially in high-risk populations.

• Folic acid supplementation: 1 mg orally once daily to support erythropoiesis.

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2. Hemoglobin H Disease (Moderate to Severe Disease)

• Folic acid supplementation: 1–2 mg orally once daily.

• Avoid oxidant drugs (e.g., sulfonamides, antimalarials) and oxidative stress.

• Blood transfusions:

  • Given during severe anemia episodes (infection, pregnancy, surgery).

  • Dose: 10–15 mL/kg packed red blood cells every 3–4 weeks if transfusion-dependent.

• Iron chelation therapy (if transfusion-dependent):

  • Deferoxamine: 20–40 mg/kg subcutaneously 5–7 nights/week.

  • Deferasirox: 20–40 mg/kg orally once daily.

  • Deferiprone: 75 mg/kg/day orally in 3 divided doses.

• Splenectomy: Considered in cases of hypersplenism with excessive transfusion needs.

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3. Alpha Thalassemia Major (Hydrops Fetalis)

• Usually fatal in utero or shortly after birth.

• In rare cases, intrauterine blood transfusions and stem cell transplantation may be attempted.

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4. Curative Therapy

• Hematopoietic stem cell transplantation (HSCT):

  • Considered in severe, transfusion-dependent alpha thalassemia (HbH disease).

  • Best results when performed in children with matched sibling donors.

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5. Supportive Measures

• Regular monitoring of hemoglobin, ferritin, and liver/cardiac iron levels.

• Vaccinations and infection prevention (especially if splenectomized).

• Genetic counseling for carriers and affected families.