Some Atypical and Rare Sickle Cell Gene Haplotypes in Populations of Andhra Pradesh, India

• Published in: Human biology 1999-06, Vol.71 (3), p.333-340
• Main Authors: NIRANJAN, Y., CHANDAK, G.R., VEERRAJU, P., SINGH, LALJI
• Format: Article
• Language: English
• Subjects: Adolescent; Adult; Anemia, Sickle Cell - ethnology; Anemia, Sickle Cell - genetics; Base Sequence; Blood; Child; Child, Preschool; Chromosomes; Developing Countries; European Continental Ancestry Group - genetics; Female; Gene Expression; Genes; Genetic aspects; Genetic mutation; Genetics; Genetics, Population; Haplotypes; Haplotypes - genetics; Health aspects; Health risk assessment; Hemoglobins; Hemoglobins - analysis; Hemoglobins - genetics; Human genetics; Humans; India - epidemiology; Male; Medical genetics; Molecular Sequence Data; Polymerase Chain Reaction; Population; Population Surveillance; Rural Population; Sampling Studies; Saudi Arabia - ethnology; Senegal - ethnology; Sickle cell anemia; Sickles
• ISSN: 0018-7143; 1534-6617

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.