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Molecular characterization of mutations causing β -thalassemia in Faisalabad Pakistan using the amplification refractory mutation system (ARMS-PCR) Baig ShahidM, Rabbi F, Hameed U, Qureshi JA, Mahmood Z, Bokhari SH, Kiani A, Hassan H, Baig JM, Azhar A, Zaman T Abstract BACKGROUND: Faisalabad is the third biggest city of Pakistan. Majority of the population is Punjabi while other ethnic groups are in minority. AIMS: The present study was undertaken to find the mutations causing β -thalassemia in Faisalabad Pakistan. MATERIALS AND METHODS: A total of 285 β -globin alleles from 143 unrelated families having at least one transfusion-dependent child were analyzed by using amplification refractory mutation system (ARMS-PCR). RESULTS: FSC-8/9 (+G) and IVS-I-5 (G →C) were the most common mutations. The allele frequency for FSC-8/9 (+G) was 38.59% while frequency for IVS-I-5 (G →C) was 37.89%. The high frequency (76.48%) of IVS-I-5 (G →C) and FSC-8/9 (+G) on various alleles provides a strong evidence of intermarriages. CONCLUSIONS: By using ARMS-PCR, the mutations were successfully characterized in 95.79% of subjects, while 4.21% remain to be characterized. This study will facilitate the implementations of genetic counseling and prenatal diagnosis in the population of Faisalabad. Keywords ARMS-PCR; β -thalassemia; mutations detection; Faisalabad; mutations; Pakistan.

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