title: Hemoglobin E disorders in Eastern Uttar Pradesh.
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.
authors.affiliation: Department of Pathology, Institute of Medical Sciences, Banaras Hindu University, Varanasi - 221005, Uttar Pradesh, India.
authors.forename: Shashikant C U
authors.initials: SC
authors.lastname: Patne
authors.forename: Jyoti
authors.initials: J
authors.lastname: Shukla
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution / Q000235:genetics; D005192:Family Health; D006446:Hemoglobin E / Q000235:genetics*; D006453:Hemoglobinopathies / Q000175:diagnosis*; D006801:Humans; D007194:India; D008297:Male; D020125:Mutation, Missense; D010290:Parents; D055815:Young Adult
chemical_list: D006446:Hemoglobin E