| Literature DB >> 19136801 |
Shashikant C U Patne1, Jyoti Shukla.
Abstract
The distribution of hemoglobin E (alpha2beta2 26Glu (R)Lys ) is mostly restricted to Northeastern India. While evaluating the patients of jaundice, we came across two cases of hemoglobin E (Hb E) disorders. The first case is in a 22-year-old Bengali male and the second case of Hb E/beta thalassemia in a 5-year-old Hindu boy. The family study revealed Hb E trait in both the parents of Case 1, whereas in Case 2, the father was found to have Hb E trait and the mother had beta -thalassemia minor, thus confirming the diagnosis. Herein, we present the laboratory diagnosis and comparative data of the spectrum of Hb E disorders (i.e., heterozygous Hb E trait, homozygous Hb E disease and compound heterozygous Hb E/beta -thalassemia) that was found in our index cases and their parents.Entities:
Mesh:
Substances:
Year: 2009 PMID: 19136801 DOI: 10.4103/0377-4929.44991
Source DB: PubMed Journal: Indian J Pathol Microbiol ISSN: 0377-4929 Impact factor: 0.740