PMID: 15253400Jul 16, 2004Paper

Hereditary persistence of foetal haemoglobin in a tribal family of Orissa, India

The National Medical Journal of India
R S Balgir

Abstract

The hereditary persistence of foetal haemoglobin (HPFH) is an autosomal co-dominant, rare, inherited condition. It occurs due to failure of switching off of the production of gamma-chains during the neonatal period leading to a high level of foetal haemoglobin in adult life but without any anaemia. During screening a randomly selected Paraja Bhuyan tribal population for haemoglobinopathies in the Sundargarh district of western Orissa, HPFH was detected in a family. Horizontal haemoglobin electrophoresis was carried out to identify abnormal haemoglobins and quantitation of the haemoglobin A2 fraction was done by the elution method at pH 8.9. Haemoglobin F was estimated. Haematological parameters were studied using an automated blood cell counter. The acid elution-staining test was used to demonstrate the intracellular distribution of haemoglobin F-containing erythrocytes. Four members of the tribal family had a high level (6.5%-13.7%) of foetal haemoglobin--the mother and 3 children. None of them had any apparent clinical or haematological abnormality except for mild pallor in the two younger children. The add elution-staining test revealed pancellular distribution of foetal haemoglobin in the erythrocytes of all the affected fa...Continue Reading

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