Abstract
Thalassaemia syndromes comprise a large clinical spectrum and a well recognized observation is the inverse link between clinical severity and quantity of fetal haemoglobin (HbF) present 1 . It is now known that three types of globin that produce haemoglobin (Hb) change from e-globin (epsilone) to g-globin (gamma) in the fetus and to b-globin (beta) around birth. This process of change is termed “globin switching”. Rarely, due to a genetic defect, the gglobin gene continues to function, producing gamma chains. Therefore HbF is present throughout life giving rise to the condition hereditary persistence of fetal haemoglobin (HPFH) 2 . Such persons are often asymptomatic and lead normal lives. Persons with thalassaemia major who have concomitant HPFH have low transfusion requirements due to the persistence of HbF, making up for the deficiency of b-globin 3 . HPFH provides a basis for a genetic approach to cure haemoglobinapathies in the future.
Highlights
Thalassaemia syndromes comprise a large clinical spectrum and a well recognized observation is the inverse link between clinical severity and quantity of fetal haemoglobin (HbF) present[1]
A 9 year old girl from the south of Sri Lanka presented to us, at the age of 9 years, with pallor and hepatosplenomegaly. She was the product of a non consanguineous marriage and a maternal uncle had died at the age of 20 years due to “thalassaemia”
She had been well until five years when she presented to the local hospital with fever, jaundice, pallor, hypochromic microcytic anaemia with target cells, a positive alkaline denaturation test and absence of bile in the urine and received a blood transfusion
Summary
Thalassaemia syndromes comprise a large clinical spectrum and a well recognized observation is the inverse link between clinical severity and quantity of fetal haemoglobin (HbF) present[1]. It is known that three types of globin that produce haemoglobin (Hb) change from e-globin (epsilone) to g-globin (gamma) in the fetus and to b-globin (beta) around birth. This process of change is termed “globin switching”. Due to a genetic defect, the gglobin gene continues to function, producing gamma chains. HbF is present throughout life giving rise to the condition hereditary persistence of fetal haemoglobin (HPFH)[2]. Such persons are often asymptomatic and lead normal lives. HPFH provides a basis for a genetic approach to cure haemoglobinapathies in the future
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