Regional distribution of glucose-6-phosphate dehydrogenase deficiency in Turkey and evaluation of clinical findings: a multicenter study
نویسندگان
چکیده
Objectives: The single most inherited enzyme deficiency is that of glucose-6-phosphate dehydrogenase (G6PD) with a presence in almost 400 million theworld’spopulation. Thenumber reported G6PD mutations 186. Furthermore, geographical location determining factor for the prevalence G6PD. Therefore, much existing epidemiological literature concerning this issue Turkey has data specific to cities and regions. purpose study was examine sample subjects. Outcome measures include clinical factors as sociated deficiency, well dispersion across regional locations Turkey. Methods: This retrospective, cross-sectional study. comprised 308 subjects diagnosis. Data collection commenced January 2011, completed by May 2020. Results: In Turkey, Mediterranean region greatest deficiency. Subjects presenting were also diagnosed haemolytic anaemia attributed favism. Subsequently, drug neonatal hyperbilirubinemia-induced haemolysis ensued. Over 90% critical recurrent allocated Class II variant. Conclusions: Mediterranean, along Agean Marmara regions are where highest observed. Favism-induced often identified precursor diagnosis common feature after condition related onset hyperbilirubinemia.
منابع مشابه
Molecular characterization of glucose-6-phosphate dehydrogenase deficiency in Turkey.
Sir, Red cell glucose-6-phosphate dehydrogenase (G6PD) deficiency is not rare in Turkey. The frequency of this enzyme deficiency in Turkish males was reported to vary between 0.5-11.4% depending upon geographical areas and/or ethnic groups.1,2 Molecular studies of red cell G6PD enzyme revealed the presence of about 122 mutations which were recently reviewed by Vulliamy et al.3 Enzyme deficiency...
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Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common erythrocyte enzyme deficiency in the world. The epidemiological, biochemical and molecular studies on G6PD enzyme deficiency performed over the past 50 years are summarized herein, with special emphasis on the findings of studies related to the enzyme deficiency in Turkey.
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ژورنال
عنوان ژورنال: The European Research Journal
سال: 2022
ISSN: ['2149-3189']
DOI: https://doi.org/10.18621/eurj.1002436