Frequency Determination of c.1115_1118delTTGG and c.3788_3790delTCT FANCA Gene Mutation in North of Khyber Pakhtunkhwa (KPK) Pakistan Fanconi’s Anemia Population

Background: This study aimed to assess the frequency determination of c.1115_1118delTTGG and c.3788_3790delTCT Fanconi's anemia A gene (FANCA) gene mutation in the North of Khyber Pakhtunkhwa (KPK) Pakistan Fanconi’s Anemia Population. Materials and Methods: A cross-sectional study was conducted at Khyber Medical University, Peshawar, Pakistan. For the Exon 13 mutation c.1115_1118delTTGG, the amplification-refractory mutation system polymerase chain reaction (ARMS PCR) was developed. Sanger sequencing confirmed the ARMS PCR results for Exon 13 and found an exon 38 mutation of the FANCA (Fanconi anemia complementation group A) gene (c.3788_3790delTCT). Sanger sequencing results analyzed on Bio edit sequence aligner software confirmed the results of PCR. The four incidental single nucleotide polymorphisms (SNPs) discovered were examined in several variation databases. Results:  The mean age for the patients was 9.68±3.02 years, with an age range of 5–16 years. Pedigree analysis of Fanconi Anemia patients revealed an autosomal recessive pattern of inheritance. Physical characteristics such as skeletal abnormalities, specifically thumb abnormalities and Fanconi's facies, are distinctive diagnostic features of FA. Pedigrees also showed bone marrow hypoplasia in 65% of patients and red cell aplasia in 6%. PCR results from all samples revealed tahat none of them had the Exon 13 mutation. In addition, none of the samples had the Exon 38 mutation. Four SNPs were found in the Sanger sequencing. Two of them were in the intron 12 region, one in each of Exons 13 and 38. Conclusion: Results show that mutations in Exon 13 and Exon 38 of the FANCA gene are uncommon in our Pakistani FA population. SNPs established in the Pakistani population of Khyber Pakhtunkhwa (KPK) province have not been reported before.