Haemoglobin E-beta-thalassaemia; a study of eight cases in Northwest India.
Eight cases of haemoglobin E-beta.thalassaemia are described. Seven of them are natives of Punjab, a Northwest province of India, and one is a native of Rajasthan, a province adjacent to Punjab. Hb E is rarely encountered in Punjab, but beta-thalassaemia is relatively common. The interaction of Hb E with beta-thalassaemia resulted in a varying severity of phenotypic manifestations. An extraordinary feature in 3 out of 8 cases was the presence of a high percentage of Hb E (94 to 96%) and proportionately low Hb F (4 to 6%). The interacting thalassaemia in 5 patients was of beta0 type and in 3 patients of beta+ type.
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004906:Erythrocyte Count; D005260:Female; D005319:Fetal Hemoglobin / Q000032:analysis; D006400:Hematocrit; D006443:Hemoglobin A2 / Q000032:analysis; D006446:Hemoglobin E / Q000032:analysis*; D006452:Hemoglobinometry; D006455:Hemoglobins, Abnormal / Q000032:analysis*; D006801:Humans; D007194:India; D007223:Infant; D008297:Male; D012156:Reticulocytes; D013789:Thalassemia / Q000097:blood*
D006455:Hemoglobins, Abnormal; D006443:Hemoglobin A2; D006446:Hemoglobin E; D005319:Fetal Hemoglobin