Unusual phenotype of hemoglobin EE with hemoglobin H disease: a pitfall in clinical diagnosis and genetic counseling

J Pediatr. 2004 Mar;144(3):391-3. doi: 10.1016/j.jpeds.2003.12.021.

Abstract

Two unrelated individuals previously diagnosed as hemoglobin (Hb) EE were found to be, in fact, Hb EE with Hb H disease. This globin genotype normally results as Hb EF Bart disease. This unusual genotype-phenotype interaction highlights the need for molecular analysis in affected individuals with Hb E disorders before appropriate genetic counseling and genetic risk estimation in offspring can be given.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Child
  • Female
  • Globins / genetics
  • Hemoglobin E*
  • Homozygote
  • Humans
  • Infant
  • Male
  • Pedigree
  • Phenotype
  • Thailand
  • alpha-Thalassemia / diagnosis
  • alpha-Thalassemia / genetics*
  • beta-Thalassemia / genetics*

Substances

  • Globins
  • Hemoglobin E