title: Some atypical and rare sickle cell gene haplotypes in populations of Andhra Pradesh, India.
abstract: We have investigated the clinical, hematological, and molecular genetic characteristics of sickle cell anemia patients from 6 populations of Andhra Pradesh, South India. Of 72 sickle cell chromosomes (HBB*S) 60 belong to characteristic Arab-Indian haplotypes, 6 to variant Arab-Indian haplotypes, 1 to a Bantu haplotype, 2 to a Cameroon haplotype, and 3 to rare haplotypes. This is the first report of a Bantu haplotype in an Indian population. Some information on haplotype characteristics of normal chromosomes (HBB*A) is also presented. The average hemoglobin level was 7.3 g% and mean fetal hemoglobin (HbF) level was 12.6%. The higher HbF levels corroborate earlier observations in sickle cell homozygotes from India. Clinical investigations have revealed splenomegaly and painful crises as the most common features in these patients.
authors.affiliation: Department of Human Genetics, Andhra University, Visakhapatnam, India.
authors.forename: Y
authors.initials: Y
authors.lastname: Niranjan
authors.forename: G R
authors.initials: GR
authors.lastname: Chandak
authors.forename: P
authors.initials: P
authors.lastname: Veerraju
authors.forename: L
authors.initials: L
authors.lastname: Singh
mesh_terms: D000293:Adolescent; D000328:Adult; D000755:Anemia, Sickle Cell / Q000208:ethnology* / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D003906:Developing Countries; D005260:Female; D015870:Gene Expression; D005828:Genetics, Population; D006239:Haplotypes / Q000235:genetics*; D006454:Hemoglobins / Q000032:analysis / Q000235:genetics*; D006801:Humans; D007194:India / Q000453:epidemiology; D008297:Male; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D011159:Population Surveillance; D012424:Rural Population; D012494:Sampling Studies; D012529:Saudi Arabia / Q000208:ethnology; D012675:Senegal / Q000208:ethnology; D044465:White People / Q000235:genetics*
chemical_list: D006454:Hemoglobins