Medical Laboratory Journal

en Evaluation of Prevalence and Characteristics of Patients with Fanconi Anemia: A Study in Northeast of Iran خون شناسی آزمایشگاهی و بانک خون Laboratory hematology تحقيقي Original Paper <div style="text-align: justify;">Background: Fanconi anemia (FA) is an autosomal recessive disorder that usually manifest in forms of pancytopenia, hyperpigmentation, and skeletal complications. Mutation in the DNA repair regulatory genes is associated with the development of FA. Examination of chromosomal breakages when chromosomes are exposed to cross-linking agents is a common method of FA diagnosis. This study aimed to evaluate the prevalence and characteristics of patients with FA in Mashhad, northeast of Iran. Methods: In this study, we evaluated 312 suspected FA patients who had been referred to the laboratory of Ghaem Hospital during 2014-2020. The mitomycin C method was used to identify FA-positive subjects. Results: After the examinations, 84 patients (26.9%) were cytogenetically positive for FA. Of 84 patients, 48 (57.1%) were male and 36 (42.9%) were female. Thumb abnormality was the most common congenital anomaly (43.2%). Conclusion: Based on the findings, males are more susceptible to FA, and thumb abnormality is the most common congenital anomaly associated with FA. Combination of clinical manifestations and genetic susceptibility in patients may contribute to a more accurate diagnosis.</div> Fanconi anemia,Mitomycin,Chromosomal breakages,Congenital abnormality, 42 46 http://mlj.goums.ac.ir/browse.php?a_code=A-10-542-2&slc_lang=en&sid=1 Sepideh Shakeri Se.shakeri@yahoo.com 100319475328460031946 100319475328460031946 No Cancer Molecular Pathology Research Center, Mashhad University of Medical Sciences, Mashhad, Iran Narjes Soltani SoltaniN1@mums.ac.ir 100319475328460031947 100319475328460031947 No Cancer Molecular Pathology Research Center, Mashhad University of Medical Sciences, Mashhad, Iran Mohammad Reza Javan javaneee@gmail.com 100319475328460031948 100319475328460031948 No Blood Transfusion Research Center, High Institute for Research and Education in Transfusion Medicine, Tehran, Iran mehrnaz abdolalian mehrnazabdolalian@gmail.com 100319475328460031949 100319475328460031949 No Blood Transfusion Research Center, High Institute for Research and Education in Transfusion Medicine, Tehran, Iran Hossein Ayatollahi Ayatollahih@mums.ac.ir 100319475328460031950 100319475328460031950 No Professor of Hematopathology, Cancer Molecular Pathology Research Center, Mashhad University of Medical Sciences, Mashhad, Iran fatemeh shams shams8869@yahoo.com 100319475328460031951 100319475328460031951 Yes Department of Hematology and Blood Banking, Blood Transfusion Research Center, High Institute for Research and Education in Transfusion Medicine, Tehran, Iran