Hemoglobin E-thalassaemia in a Sikh child: a case report.
Hemoglobin E is a beta chain variant that has its most clinically significant interaction with thalassaemia. The compound heterozygous state, thus produced, can result in a thalassaemia intermedia/major phenotype with affected individuals being transfusion dependent. Hemoglobin E is very common in north-east India with relatively fewer reportsfrom rest of the country. Reports of hemoglobin E in the Punjabi population are even rarer. A case of hemoglobin E-thalassaemia in a Sikh child is being presented because of its highly uncommon occurrence in natives of Punjab.
Kakkar
Naveen
N
Department of Pathology, Christian Medical College & Hospital, Ludhiana. n_kakkar@satyam.net.in
D002675:Child, Preschool; D005260:Female; D006580:Genetic Carrier Screening; D006446:Hemoglobin E / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000032:analysis; D006579:Heterozygote; D006801:Humans; D007194:India / Q000208:ethnology; D008297:Male; D010641:Phenotype; D013789:Thalassemia / Q000175:diagnosis / Q000208:ethnology* / Q000235:genetics*
D006455:Hemoglobins, Abnormal; D006446:Hemoglobin E