Hemoglobin E-thalassaemia in a Sikh child: a case report

Indian J Pathol Microbiol. 2005 Jul;48(3):408-10.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Female
  • Genetic Carrier Screening*
  • Hemoglobin E / genetics*
  • Hemoglobins, Abnormal / analysis
  • Heterozygote
  • Humans
  • India / ethnology
  • Male
  • Phenotype
  • Thalassemia / diagnosis
  • Thalassemia / ethnology*
  • Thalassemia / genetics*

Substances

  • Hemoglobins, Abnormal
  • Hemoglobin E