Article
Evaluation of the genetic basis of phenotypic heterogeneity in north Indian patients with thalassemia major.
European journal of haematology - 1 Jun 2010
Sharma Nidhi, Das Reena, Kaur Jasbir, Ahluwalia Jasmina, Trehan Amita, Bansal Deepak, Panigrahi Inusha, Marwaha Ram Kumar
Abstract excerpt
OBJECTIVES: To assess the molecular basis of phenotypic heterogeneity in north Indian patients with thalassemia major (TM). METHODS: To determine the clinical severity, 130 patients of TM were studied for the age of first presentation and frequency of blood transfusion. The type of beta mutations...
Topics
- Age of Onset
- Alleles
- Child, Preschool
- Deoxyribonucleases, Type II Site-Specific
- Female
- Gene Frequency
- Genetic Association Studies
- Glucosephosphate Dehydrogenase
- Heterozygote
- Homozygote
- Humans
- Hydroxyurea
- India
- Infant
- Male
- Mutation
- Phenotype
- Polymorphism, Restriction Fragment Length