What is thalassaemia?
It is an autosomal recessive disorder of haemoglobin production, where there is partial
or total failure to synthesise a specific type of globin chain. Thalassaemia is of two
types:
alpha-thalassaemia: Reduction or absence of alpha-chain synthesis
beta-thalassaemia: Reduction or absence of beta-chain synthesis (commonest variety).
Haemolytic anaemia is divided into hereditary and acquired (falciparum malaria, SLE,
drugs like primaquine, eclampsia, lymphoma) types. Other than thalassaemia, other
hereditary haemolytic anaemias are sickle cell anaemia, hereditary spherocytosis,
haemoglobin E disease and G6PD deficiency.
Recurrent infections (commonly in the respiratory tract).
Typical mongoloid facies (read ‘Facies’ in ‘General examination’).
Splenomegaly (huge) and hepatomegaly (mild to moderate).
May give past H/o repeated blood transfusions in different hospitals
It is an autosomal recessive disorder of haemoglobin production, where there is partial
or total failure to synthesise a specific type of globin chain. Thalassaemia is of two
types:
alpha-thalassaemia: Reduction or absence of alpha-chain synthesis
beta-thalassaemia: Reduction or absence of beta-chain synthesis (commonest variety).
Haemolytic anaemia is divided into hereditary and acquired (falciparum malaria, SLE,
drugs like primaquine, eclampsia, lymphoma) types. Other than thalassaemia, other
hereditary haemolytic anaemias are sickle cell anaemia, hereditary spherocytosis,
haemoglobin E disease and G6PD deficiency.
Recurrent infections (commonly in the respiratory tract).
Typical mongoloid facies (read ‘Facies’ in ‘General examination’).
Splenomegaly (huge) and hepatomegaly (mild to moderate).
May give past H/o repeated blood transfusions in different hospitals