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


METHODS
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.


RESULTS
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 family members.


CONCLUSIONS
Genetic traits such as hereditary persistence of foetal haemoglobin, although rare, are prevalent in India.
Balgir
R S
RS
Division of Human Genetics, Regional Medical Research Centre (ICMR), Chandrasekharpur, Opposite Kalinga Hospital, Bhubaneswar 751023, Orissa, India. balgirrs@yahoo.co.in
D002648:Child; D002908:Chronic Disease; D004912:Erythrocytes; D005260:Female; D005319:Fetal Hemoglobin / Q000032:analysis / Q000235:genetics*; D006453:Hemoglobinopathies / Q000097:blood / Q000208:ethnology* / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D007194:India / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D044382:Population Groups / Q000235:genetics*; D012307:Risk Factors; D013789:Thalassemia / Q000097:blood / Q000208:ethnology / Q000235:genetics
D005319:Fetal Hemoglobin