Prevention of β-thalassemia in a large pakistani family through cascade testing

S. M. Baig, M. A. Din, H. Hassan, A. Azhar, J. M. Baig, M. Aslam, I. Anjum, M. Farooq, M. S. Hussain, M. Rasool, S. Nawaz, J. A. Qureshi, T. Zaman

Research output: Contribution to journalArticlepeer-review

16 Citations (Scopus)


Background: We report cascade testing of a large Pakistani family for β-thalassemia alleles. The family was still practicing consanguineous marriages and was at risk of having more affected births. Objective: 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 β-thalassemia in Pakistan. Methods: In this large family with an index case, 27 available living members were tested for β-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. Results: 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 β-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 genetic counseling sessions. Conclusion: Cascade testing is more practical than general population screening in a country with limited health facilities where consanguineous marriages are practiced. This report emphasizes the need of extensive testing within families with index cases to identify the carriers of β-thalassemia in order to reduce disease occurrence through awareness and genetic counseling.

Original languageEnglish
Pages (from-to)68-70
Number of pages3
JournalCommunity Genetics
Issue number1
Publication statusPublished - Jan 2008
Externally publishedYes


  • Amplification refractory mutation system
  • Cascade testing
  • Genetic counseling
  • Index case
  • Polymerase chain reaction
  • β-Thalassemia


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