Thalassemia : Clinical features, types and treatment


Definition: Thalassaemia is an inherited impairment of haemoglobin production, in which there is partial or complete failure to synthesis a specific type of globin chains.

We have described in article :

Types of Thalassaemia

Diagnostic features of Thalassaemia

Clinical feature of Thalassaemia

Investigation of Thalassaemia

Treatment of Thalassaemia

Clinical features of thalassemia :

  1. Severe in the first year of life.
  2. Feature to thrive
  3. Mongoloid facies- Forntal & parietal bossing, porminent malar eminences, depressed nasal bridge.
  4. Splenomegaly
  5. Hepatomegaly

Investigations of thalassemia :

1). Hb% Markedly reduced

2) Peripheral blood film : 

  • Microcytic hypochromic RBC, nucleated RBC
  • Target cell, tear drop cell, punctuate basophilia.

3) RBC indices-Reduced MCV and MCH

4) Bone marrow: Cellularity – Hypercellular

5) Serum bilirubin, iron, ferritin, uric acid increased.

6) X-ray skull.

7) X-ray hand.

8) Haemoglobin electrophoresis

  • Hb-F: Raised.
  • Hb – A : Decreased.
  • Hb- A2 Normal.

Treatment of thalassaemia :

  1. Regular fresh blood transfusion to maintain Hb above 10 gm/dl (Hypertransfusion): cell transfusion 15ml/kg every 4-6 weeks, whole blood transfusion.
  2. Tab. Folic acid 5 mg daily for life long.
  3. Treatment of iron overload:
  • a) Iron therapy forbidden
  • b) Desferrioxamine therapy: 1.5-2gm subcutaneous infusion over 8-12 hours on nights/week in a dosage of 50 mg/kg/night.
  • c) Tab. Ascorbic acid 200mg daily.
  1. Splenectomy. If hypersplenism or mechanical problem.
  2. Histocompatiable bone marrow transplantation.

Types of thalassaemia:

  1. Beta – thalassaemia.
  2. Alpha -thalassaemia
Types of Beta -thalassaemia:

A) On extent of reduction of B-chain:

  1. Beta degree – thalassaemia : There is complete absence of B-chain synthesis.
  2. B+ thalassaemia: There is incomplete reduction of B-chain synthesis.

B) Clinical classification :

  1. Beta – thalassaemia major/Cooley’s anaemia: There is total suppression of B-chain synthesis. It is homozygous state for either B0 or B+ thalassaemia gene. Hb-A is completely absent in B0 thalassaemia and is present in small amount in B+ thalassaemia. Hb-F is 10-90%.
  2. Beta – thalassaemia minor : Suppression of Beta-chain synthesis is much less severe. It is heterozygous state and is a mild or asymptomatic condition.

Alpha -thalassaemia: Here there is reduction of Hb-A, Hb-F & Hb-A2 (as they contain alpha-chain), with the formation of Hb-Barts (y4) in foetus and Hb-H in adult.

Types of Alpha – thalassaemia :

  1. Hydrops foetalis (Hb-Barts): All 4 genes are deleted. Affected infants are either born dead or die within a few hours of birth.
  2. Hb-H disease: 3 genes are deleted.
  3. alpha -thalassaemia trait: 2 genes are deleted.

Diagnostic features/criteria of Beta -thalassaemia 

Beta-thalassaemia major (homozygotes):

  1. Profound hypochromic anaemia.
  2. Evidence of severe red cell dysplasia.
  3.  Erythroblastosis.
  4. Absence or gross reduction of the amount of haemoglobin A.
  5. Raised levels of haemoglobin F.
  6. Evidence that both parents have thalassaemia minor.

Beta-thalassaemia minor (heterozygotes):

  1. Mild anaemia
  2. Microcytic hypochromic erythrocytes (not iron-deficient).
  3. Some target cells.
  4. Punctate basophilia.
  5. Raised resistance of erythrocytes to osmotic lysis.
  6. Raised haemoglobin A2 fraction.
  7. Evidence that one parent has thalassaemia minor.

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