Hematological and molecular analysis of novel and rare beta-thalassemia mutations in the Indian population
Related Experiment Video
Updated: Jun 25, 2026

Detection of Residual Donor Erythroid Progenitor Cells after Hematopoietic Stem Cell Transplantation for Patients with Hemoglobinopathies
Published on: September 6, 2017
Anita Nadkarni1, Ajit Gorakshakar, Reema Surve
1National Institute of Immunohaematology, Indian Council of Medical Research, King Edward Memorial Hospital Campus, Mumbai, India.
Abstract:
A variety of mutations causing beta-thalassemia (beta-thal) have been seen in the Indian subcontinent. We report eight families in whom two novel mutations [codon 16 (C>T), IVS-II-613 (C>T)] and three rare mutations [codons 22/23/24 (-7 bp) (-AAGTTGG), -87 (C>A), codon 15 (-T)] were encountered among 375 beta-thal heterozygotes. They were referred to us for molecular characterization or prenatal diagnosis during a period of 2 years. Haplotyping was also done for linkage analysis.
Related Concept Videos
Bone Marrow Sampling and Transplants
The transplant begins with high doses of chemotherapy and radiation treatment, which aim to destroy the...
Multiple Allele Traits
Alternative RNA Splicing
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
