Article
Nucleotide -88 (C-T) promoter mutation is a common beta-thalassemia mutation in the Jat Sikhs of Punjab, India.
American journal of hematology - 1 Aug 2005
Garewal Gurjeewan, Das Reena, Ahluwalia Jasmina, Marwaha R K, Varma S
Abstract excerpt
A study of beta-gene mutations in Jat Sikhs, a subcaste of Punjabis, revealed a very high prevalence (46%: 41/88) of the mild beta++ promoter region mutation -88 (C-T). Sixteen individuals presenting in homozygous form were clinically mild. Un-transfused patients had characteristic hematological findings: high Hb F (38.1-68.6%, mean 47.4%), high Hb A2 (5.7-9.8%, mean 6.88%), and the rest had adult hemoglobin. The...
Topics
- Adolescent
- Adult
- Blood Transfusion
- Child
- DNA
- Ethnicity
- Globins
- Haplotypes
- Heterozygote
- Homozygote
- Humans
- India
- Mutation
- Pedigree
- Polymorphism, Single Nucleotide
- Promoter Regions, Genetic
- beta-Thalassemia