title: Clinical and molecular characterization of β(S) and (G)γ((A)γδβ)⁰-thalassemia in eastern India.
abstract: Fetal hemoglobin (Hb F) is the most studied modifier of sickle cell disease. Coinheritance of high Hb F determinants such as δβ-thalassemia (δβ-thal) and hereditary persistence of fetal hemoglobin (HPFH) can contribute to raised Hb F concentration in these patients. One hundred and seventy-six cases of sickle cell disease with high Hb F were screened for the presence of the Asian Indian deletion-inversion (G)γ((A)γδβ)⁰-thal and HPFH-3 (Indian, 48.5 kb) disorders. Three cases from two unrelated families were found to have sickle cell disease and the ((A)γδβ)⁰-thal genotype. Three other members had heterozygous (G)γ((A)γδβ)⁰-thal. None had HPFH-3. Despite very high Hb F concentrations and linkage of the β(S) gene to Asian haplotypes, the compound heterozygotes had severe clinical presentation, possibly because of heterocellular distribution of Hb F. In conclusion, these high Hb F determinants are not common causes of high Hb F in Indian sickle cell disease patients.
authors.affiliation: Sickle Cell Research Project, Department of Medicine, Veer Surendra Sai Medical College, Burla, Orissa, India. drdilippatel25@gmail.com
authors.forename: Dilip Kumar
authors.initials: DK
authors.lastname: Patel
authors.forename: Madhumita
authors.initials: M
authors.lastname: Patel
authors.forename: Ranjeet Singh
authors.initials: RS
authors.lastname: Mashon
authors.forename: Siris
authors.initials: S
authors.lastname: Patel
authors.forename: Preetinanda Manaswini
authors.initials: PM
authors.lastname: Dash
authors.forename: Bhabani Shankar
authors.initials: BS
authors.lastname: Das
mesh_terms: D000293:Adolescent; D000755:Anemia, Sickle Cell / Q000235:genetics* / Q000473:pathology; D002648:Child; D005260:Female; D005319:Fetal Hemoglobin / Q000235:genetics*; D056726:Genetic Association Studies; D006579:Heterozygote; D006801:Humans; D007194:India; D008297:Male; D009154:Mutation; D055815:Young Adult; D017086:beta-Thalassemia / Q000235:genetics* / Q000473:pathology; D055538:delta-Thalassemia / Q000235:genetics* / Q000473:pathology
chemical_list: D005319:Fetal Hemoglobin