Prevention of beta-thalassemia in a large Pakistani family through cascade testing

Community Genetics
Shahid Mahmood BaigTariq Zaman

Abstract

We report cascade testing of a large Pakistani family for beta-thalassemia alleles. The family was still practicing consanguineous marriages and was at risk of having more affected births. The objective of this study was to show that identification of disease carriers in families with index cases in order to create awareness about disease and provide genetic counseling would result in reduction of the frequency of beta-thalassemia in Pakistan. In this large family with an index case, 27 available living members were tested for beta-thalassemia. Carriers of the disease were detected by measuring hemoglobin indices, and amplification refractory mutation system polymerase chain reaction was used for mutation analysis. Genetic counseling was provided to members of this family. There were already 3 marriages between the carrier members and 1 between a carrier and noncarrier in this large family; 12 (44.4%) members were found to carry the mutant gene, representing a very high carrier rate compared to the 5.4% carrier frequency of beta-thalassemia in the general population of Pakistan. The family was counseled for prevention of affected births. The initially reluctant family gradually became cooperative and seriously attended the gene...Continue Reading

References

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Jul 6, 2006·Prenatal Diagnosis·Shahid Mahmood BaigTariq Zaman

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Citations

Jan 20, 2012·Journal of Pediatric Hematology/oncology·Shahid Mahmood BaigSyeda Marriam Bakhtiar
Mar 26, 2016·Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society·Ingrid DuguépérouxVirginie Scotet
Jan 1, 2013·Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society·Ingrid DuguépérouxVirginie Scotet
Aug 26, 2014·Journal of Medical Screening·Muhammad ShariqRab Nawaz Memon

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