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Thalassaemia

Title   

Ñ    Thalassaemia

Definition

A condition caused by:

Ñ    An imbalanced production of globin chains

Two types

Ñ    b Thalassaemia:

Impaired production of b globin chains

Ñ    a Thalassaemia:

Impaired production of a globin chains

 

 

b Thalassaemia

Title

Ñ    b Thalassaemia

Aetiology

Ñ    Inherited disorder

Pathogenesis

Ñ    Production of b chains is impaired resulting in an excess of a chains.

Ñ    This results in precipitation of the excess a chains resulting in ineffective erythropoiesis and haemolysis.

Clinical Features

Three syndromes may result:

Thalassaemia minor (Thalassaemia trait):

Ñ    Asymptomatic carrier state

Ñ    Anaemia mild or absent, red cells hypochromic and microcytic

Thalassaemia intermedia

Ñ    Moderate anaemia:

Hb 7-10g/dL

Ñ    Does not require regular transfusions

Ñ    Splenomegaly, bone deformities, leg ulcers, gallstones

Thalassaemia major (Cooley’s anaemia):

E&M

Ñ    Failure to thrive

IS

Ñ    Leg ulcers

GIT:

Ñ    Gallstones

HS

Ñ    Anaemia

Ñ    Hepatosplenomegaly:

Extramedullary erythropoiesis

Ñ    Recurrent bacterial infections

LMS

Ñ    Bone expansion:

Extramedullary erythropoiesis

Ñ    Classic thalassaemic facial features:

Frontal and parietal bossing

Enlarged maxillary bones

Investigations

Fluids

Blood

Haematology

Ñ    Hypochromic microcytic anaemia

Biochemistry

Ñ    Increased HbA₂, HbF

Imaging

X-ray

Ñ    Expansion of bone marrow:

Hand x-rays

Hair on end appearance on skull x-ray

Management

Support

Biological agents

Ñ    Blood Transfusion:

To keep Hb above 10g/dL

Drugs

Ñ    Folic acid supplements:

In view of chronic haemolysis

Control

Surgery

Ñ    Splenectomy:

If transfusion requirements are high

Delayed until after the age of 6 years

Biological agents

Ñ    Bone marrow transplantation

Prevention

Ñ    Desferrioxamine and vitamin C:

To prevent iron overload, vitamin C increases urinary excretion of iron in response to desferrioxamine

 

 

a Thalassaemia

Ñ    Abnormal production of a globin chains due to gene deletions

4 genes deleted

Ñ    Severe disease with hydrops foetalis:

Pale oedematous infant with hepatosplenomegaly

Child stillborn or dies shortly after birth

3 genes deleted

Ñ    Anaemia:

Hb 7-10 g/dL

Ñ    Splenomegaly

2 genes deleted

Ñ    Microcytosis with or without mild anaemia

1 gene deleted     

Ñ    Normal

Ñ    a Thalassaemia trait

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