Indian Journal of Pathology and Microbiology (Jan 2009)
Hemoglobin E disorders in Eastern Uttar Pradesh
Abstract
The distribution of hemoglobin E (α2β2 26Glu ®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/β 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 β -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/β -thalassemia) that was found in our index cases and their parents.
