A report of Fanconi anemia findings from northeast of Iran
نویسندگان: Mohammad Reza Javan ©, Mehrnaz Abdolalian, Fatemeh Tavangar
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Background and Aim
Fanconi anemia (FA) is an autosomal recessive and rarely X-linked genetic disorder. FA manifestations include pancytopenia, hyperpigmentation, and skeletal complications. Mutation in the DNA repair regulatory genes is associated with the development of this disease. Although different methods are used to diagnose this disease, the examination of chromosomal fractures when chromosomes are exposed to cross-linking agents is the common method.
In this study, we evaluated 312 suspected FA patients, who were referred to the laboratory of Ghaem Hospital for diagnosis.
Mitomycin C (MMC) method was used for evaluated positive FA subjects
Among positive FA patients, 48 patients (57.1%) were male and 36 patients (42.9%) were female. Thumb abnormality was reported in 43.2% of FA and was the most common congenital abnormality.
Since the different frequency of clinical symptoms in eastern Iran compared to the north of the country, more studies need to evaluate various factor can affect clinical manifestation incidence.
Fanconi anemia; Mitomycin C; chromosomal breakages; congenital abnormality
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