Detection of Hemophilia A Carriers in Azeri Turkish Population of Iran Usefulness of HindIII and BclI markers

• Published in: Clinical and applied thrombosis/hemostasis Vol. 21; no. 8; pp. 755 - 759
• Main Authors: Moharrami, Tamouchin, Derakhshan, Sima Mansoori, Pourfeizi, Abbas Ali H., Khaniani, Mahmoud Shekari
• Format: Journal Article
• Language: English
• Published: Los Angeles, CA SAGE Publications 01.11.2015
• Subjects: Deoxyribonucleases, Type II Site-Specific - chemistry; Female; Genetic Carrier Screening - methods; Hemophilia A - ethnology; Hemophilia A - genetics; Heterozygote; Humans; Iran - ethnology; Male; Polymorphism, Restriction Fragment Length; hemophilia A; PCR-RFLP; carrier detection; Azeri Turkish population
• ISSN: 1076-0296; 1938-2723
• DOI: 10.1177/1076029614526638

Hemophilia A (HA) is an inherited X-linked coagulation disorder caused by the deficiency of factor VIII (FVIII). Linkage analysis is a common indirect method for the detection of female carriers in families with HA. In the current study, 173 patients from 30 unrelated families with HA were recruited from the Azeri Turkish population of northwest Iran and analyzed for BclI and HindIII markers by polymerase chain reaction-restriction fragment length polymorphism. We investigated the potential of using these markers for the detection of mutation in carriers through linkage analysis, which would be of tremendous use in prenatal diagnosis. Among the tested women, 47% and 35% were found to be heterozygous for BclI and HindIII polymorphic markers, respectively. The BclI and HindIII markers were informative for the detection of 63% and 17% potential carriers, respectively, demonstrating the effectiveness of the BclI marker for the detection of HA carriers among the Azeri Turkish population.