Molecular characterization of mutations causing β -thalassemia in Faisalabad Pakistan using the amplification refractory mutation system (ARMS-PCR)

Abstract

BACKGROUND: Faisalabad is the third biggest city of Pakistan. Majority
\nof the population is Punjabi while other ethnic groups are in minority.
\n AIMS: The present study was undertaken to find the mutations causing
\nβ -thalassemia in Faisalabad Pakistan. MATERIALS AND METHODS: A
\ntotal of 285 β -globin alleles from 143 unrelated families having
\nat least one transfusion-dependent child were analyzed by using
\namplification refractory mutation system (ARMS-PCR). RESULTS: FSC-8/9
\n(+G) and IVS-I-5 (G →C) were the most common mutations. The
\nallele frequency for FSC-8/9 (+G) was 38.59% while frequency for
\nIVS-I-5 (G →C) was 37.89%. The high frequency (76.48%) of IVS-I-5
\n(G →C) and FSC-8/9 (+G) on various alleles provides a strong
\nevidence of intermarriages. CONCLUSIONS: By using ARMS-PCR, the
\nmutations were successfully characterized in 95.79% of subjects, while
\n4.21% remain to be characterized. This study will facilitate the
\nimplementations of genetic counseling and prenatal diagnosis in the
\npopulation of Faisalabad.