Some atypical and rare sickle cell gene haplotypes in populations of Andhra Pradesh, India.
PMID 10380370 · Human biology · 1999
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.
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | HBB | “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.” | 0.98 | hgnc_dict_v1 |
| phenotype | sickle cell anemia | “We have investigated the clinical, hematological, and molecular genetic characteristics of sickle cell anemia patients from 6 populations of Andhra Pradesh, South India.” | 0.98 | phenotype_alias_lexicon_v2 |