Abstract
Background: Hemoglobinopathies are priority genetic diseases for prevention programs. Beta thalassaemia major is one of the single gene blood disorders worldwide. It is also a major health concern in India. Screening of carriers all the way through diverse screening approach is the only way to prevent birth of thalassaemia major child. Objective: This study was done to screen and molecularly characterize beta thalassaemia mutations in the parents and siblings of thalassaemia major index cases using ARMS polymerase chain reaction for the common Indian mutations and also as an alternative approach to population based screening program for identifying thalassaemia carriers to prevent birth of thalassaemic children in the family members of a thalassaemia index family. Methods: Blood samples were collected from thirty families of thalassaemia index cases. Fifty samples from parents and thirty three siblings of them were given their samples for thalassaemia carrier screening and molecular characterization of five common Indian ?-thalassaemia mutations using amplification refractory mutation system polymerase chain reaction. Results: Seventy five (90%) cases of heterozygous beta thalassaemia were detected in the survey of 83 samples of parents and siblings having beta thalassaemia major children. Conclusion: Screening of siblings of thalassaemia major cases is necessary and facilitate detection of carriers ultimately helps in prevention of birth of Thalassaemic child.
Highlights
Thalassaemia and haemoglobinopathies, a group of single gene autosomal-recessive inherited human disorders, are widespread in many parts of the world
The parents were confirmed β-thalassaemia carriers as they had an affected child with transfusion-dependent β-thalassaemia. 50 samples from parents including 29 paternal and 21 maternal samples were taken for screening of five common Indian β-thalassaemia mutations from 30 families
Molecular characterization of all samples collected from parents and siblings of thalassaemia major index cases was made to identify the proportion of thalassaemia carriers as well as the incidence of mutations present in them
Summary
Thalassaemia and haemoglobinopathies, a group of single gene autosomal-recessive inherited human disorders, are widespread in many parts of the world. Objective: This study was done to screen and molecularly characterize common Indian beta thalassaemia mutations in the parents and siblings of thalassaemia major index cases using ARMS polymerase chain reaction and as an alternative approach to population based screening program for identifying thalassaemia carriers to prevent birth of thalassaemic children in the family members of a thalassaemia index family. Conclusion: The study concludes that screening of siblings of thalassaemia major cases is necessary and facilitates detection of carriers which helps in prevention of birth of a thalassaemic child.
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