Article
Impact of beta globin gene mutations on the clinical phenotype of beta thalassemia in India.
Blood cells, molecules & diseases - 1 Jan 2000
Colah Roshan, Nadkarni Anita, Gorakshakar Ajit, Phanasgaonkar Supriya, Surve Reema, Subramaniam P G, Bondge Nagnath, Pujari Kamala, Ghosh Kanjaksha, Mohanty Dipika
Abstract excerpt
The beta thalassemias are one of the commonest group of autosomal recessive disorders in India. Although majority of patients are severe and transfusion-dependent, about 10-15% of cases have a milder phenotype. We evaluated the role of beta gene mutations in modulating the clinical presentation of 342 beta thalassemia patients which included 278 severe thalassemia major (TM) and 64 thalassemia intermedia (TI)...
Topics
- Blood Transfusion
- Codon
- DNA
- Genes, Recessive
- Globins
- Humans
- India
- Phenotype
- Sequence Deletion
- beta-Thalassemia