All::Haematology::Diseases::Alpha-thalassaemia

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What is Alpha-thalassaemia?

a group of disorders of haemoglobin synthesis, caused by mutations or deletions in at least 1 of the 4 alpha-globin genes

Alpha-thalassaemia

Alpha-thalassaemia

If 1 or 2 alpha globulin alleles are affected how would the patient be effected?

the blood picture would be hypochromic and microcytic, but the Hb level would be typically normal

Alpha-thalassaemia

Alpha-thalassaemia

If 3 alpha globulin alleles are affected how would the patient be effected?

a hypochromic microcytic anaemia with splenomegaly. This is known as Hb H disease

Alpha-thalassaemia

Alpha-thalassaemia

If 4 alpha globulin alleles are affected how would the patient be effected?

then death in utero

Alpha-thalassaemia