Thalassemia : Clinical features, types and treatment
Thalassaemia
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 :
- Severe in the first year of life.
- Feature to thrive
- Mongoloid facies- Forntal & parietal bossing, porminent malar eminences, depressed nasal bridge.
- Splenomegaly
- 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 :
- Regular fresh blood transfusion to maintain Hb above 10 gm/dl (Hypertransfusion): cell transfusion 15ml/kg every 4-6 weeks, whole blood transfusion.
- Tab. Folic acid 5 mg daily for life long.
- 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.
- Splenectomy. If hypersplenism or mechanical problem.
- Histocompatiable bone marrow transplantation.
Types of thalassaemia:
- Beta – thalassaemia.
- Alpha -thalassaemia
Types of Beta -thalassaemia:
A) On extent of reduction of B-chain:
- Beta degree – thalassaemia : There is complete absence of B-chain synthesis.
- B+ thalassaemia: There is incomplete reduction of B-chain synthesis.
B) Clinical classification :
- 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%.
- 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 :
- Hydrops foetalis (Hb-Barts): All 4 genes are deleted. Affected infants are either born dead or die within a few hours of birth.
- Hb-H disease: 3 genes are deleted.
- alpha -thalassaemia trait: 2 genes are deleted.
Diagnostic features/criteria of Beta -thalassaemia
Beta-thalassaemia major (homozygotes):
- Profound hypochromic anaemia.
- Evidence of severe red cell dysplasia.
- Erythroblastosis.
- Absence or gross reduction of the amount of haemoglobin A.
- Raised levels of haemoglobin F.
- Evidence that both parents have thalassaemia minor.
Beta-thalassaemia minor (heterozygotes):
- Mild anaemia
- Microcytic hypochromic erythrocytes (not iron-deficient).
- Some target cells.
- Punctate basophilia.
- Raised resistance of erythrocytes to osmotic lysis.
- Raised haemoglobin A2 fraction.
- Evidence that one parent has thalassaemia minor.
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