title: Compound heterozygosity for Hb E and Hb Lepore-Hollandia in India; first report and potential diagnostic pitfalls.
abstract: A compound heterozygous state of Hb E [beta26(B8)Glu-->Lys] with Hb Lepore is rare with very few cases reported in the literature. This report describes the first such case from India. The clinical features and hemoglobin (Hb) analysis mimic Hb E-beta-thalassemia (thal) but with a mild phenotype. Detection was made possible in this case because DNA analysis gave discrepant results suggestive of homozygous Hb E. As this was inconsistent with the clinical phenotype and Hb analysis, further evaluation was undertaken that confirmed the presence of Hb Lepore. This study shows that cases of Hb E/Lepore may remain undetected unless family studies and/or detailed DNA analyses in patients diagnosed to have Hb E-beta-thal are performed.
authors.affiliation: Department of Haematology, Christian Medical College, Vellore, India.
authors.forename: Eunice Sindhuvi
authors.initials: ES
authors.lastname: Edison
authors.forename: Ramachandran V
authors.initials: RV
authors.lastname: Shaji
authors.forename: Alok
authors.initials: A
authors.lastname: Srivastava
authors.forename: Mammen
authors.initials: M
authors.lastname: Chandy
mesh_terms: D000293:Adolescent; D006446:Hemoglobin E / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D017086:beta-Thalassemia / Q000175:diagnosis / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal; C477064:hemoglobin Lepore-Hollandia; D006446:Hemoglobin E