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mljgoums 2023, 17(1): 42-46 |
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Shakeri S, Soltani N, Javan M R, abdolalian M, Ayatollahi H, shams F. Evaluation of Prevalence and Characteristics of Patients with Fanconi Anemia: A Study in Northeast of Iran. mljgoums 2023; 17 (1) :42-46
URL: http://mlj.goums.ac.ir/article-1-1383-en.html
URL: http://mlj.goums.ac.ir/article-1-1383-en.html
Sepideh Shakeri1 
, Narjes Soltani1 , Mohammad Reza Javan2 , Mehrnaz Abdolalian2 , Hossein Ayatollahi3 , Fatemeh Shams 4
, Narjes Soltani1 , Mohammad Reza Javan2 , Mehrnaz Abdolalian2 , Hossein Ayatollahi3 , Fatemeh Shams 4
1- Cancer Molecular Pathology Research Center, Mashhad University of Medical Sciences, Mashhad, Iran
2- Blood Transfusion Research Center, High Institute for Research and Education in Transfusion Medicine, Tehran, Iran
3- Professor of Hematopathology, Cancer Molecular Pathology Research Center, Mashhad University of Medical Sciences, Mashhad, Iran
4- Department of Hematology and Blood Banking, Blood Transfusion Research Center, High Institute for Research and Education in Transfusion Medicine, Tehran, Iran ,shams8869@yahoo.com
2- Blood Transfusion Research Center, High Institute for Research and Education in Transfusion Medicine, Tehran, Iran
3- Professor of Hematopathology, Cancer Molecular Pathology Research Center, Mashhad University of Medical Sciences, Mashhad, Iran
4- Department of Hematology and Blood Banking, Blood Transfusion Research Center, High Institute for Research and Education in Transfusion Medicine, Tehran, Iran ,
Abstract: (2190 Views)
Background and objectives: 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.
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.
Keywords: Fanconi anemia [MeSH], Mitomycin [MeSH], Chromosomal breakages [MeSH], Congenital abnormality [MeSH]
Research Article: Original Paper |
Subject:
Laboratory hematology
Received: 2021/04/24 | Accepted: 2021/06/23 | Published: 2023/01/20 | ePublished: 2023/01/20
Received: 2021/04/24 | Accepted: 2021/06/23 | Published: 2023/01/20 | ePublished: 2023/01/20
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