A novel Indian ?-thalassemia mutation in the CACCC box of the promoter region
- 1 December 2006
- journal article
- case report
- Published by Wiley in European Journal of Haematology
- Vol. 77 (6) , 530-532
- https://doi.org/10.1111/j.0902-4441.2006.t01-1-ejh2923.x
Abstract
This is the first report of a previously undescribed mutation in Indian subjects of the CACCC box of promoter region for beta-globin, which in combination with a common mutation produces thalassemia major in the offspring of the family.Keywords
This publication has 9 references indexed in Scilit:
- Rare ?-thalassemia mutations are cause of concernAmerican Journal of Hematology, 2004
- Molecular Genetic Testing of β-Thalassemia Patients of Indian Origin and a Novel 8-bp Deletion Mutation at Codons 36/37/38/39Genetic Testing, 2003
- The Thalassaemia SyndromesPublished by Wiley ,2001
- Geographic and Ethnic Distribution of β-Thalassemia Mutations in Uttar Pradesh, IndiaHemoglobin, 2000
- Regional distribution of β-thalassemia mutations in IndiaHuman Genetics, 1997
- Relative Levels of α-, β-, and γ-mRNA from Patients with Severe and Intermediate β-Thalassemia MajorActa Haematologica, 1997
- Promoter mutations producing mild β‐thalassaemia in the Italian populationBritish Journal of Haematology, 1992
- Rare β‐thalassaemia mutations in Asian IndiansBritish Journal of Haematology, 1991
- An erythroid specific nuclear factor binding to the proximal CACCC box of the β-globin gene promoterNucleic Acids Research, 1988