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.
Objectives: The objective of the present study was to review the blood components acquisition patterns and practices of transfusion in a tertiary care hospital. Material and Methods: An observational cross sectional retrospective study was conducted in the blood bank of Hayatabad Medical Complex (HMC) Peshawar, for a period of six months. The requisition forms for blood components and details of patients acquiring blood products for transfusion recorded in HMC blood bank Blood components issue register were the sources of data. The data was analyzed using software SPSS version 20. Results: In the study period of six months a total 16025 blood components were transfused with an average of 2670 units per month. whole blood was the maximum blood product transfused and followed by RCC, platelets and FFPs are least utilized blood products. Among total patients 50 % were males while 50% were females. Pediatric units utilized maximum (21.2%) units followed by Gynae/Obs. (19.1%), Medical units demanded 16.7% , Accident and Emergency (A&E) unit 14.1%, surgical units 8.8% , intensive care unit (ICU) 6.8%, Orthopedic units consumed 3.3% , cardiology 3.1%, gastroenterology 2.6 %, oncology 2.4% and endocrinology consumed 1.5 %.
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