A report of Fanconi anemia findings from northeast of Iran

Mohammad Reza Javan ©, Mehrnaz Abdolalian, Fatemeh Tavangar

A report of Fanconi anemia findings from northeast of Iran

کد: G-81049

نویسندگان: Mohammad Reza Javan ©, Mehrnaz Abdolalian, Fatemeh Tavangar

زمان بندی: زمان بندی نشده!

برچسب: هماتولوژی

دانلود: دانلود پوستر

خلاصه مقاله:

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.

Methods

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

Results

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.

Conclusion

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.

Keywords

Fanconi anemia; Mitomycin C; chromosomal breakages; congenital abnormality

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