Glucose-6-phosphate dehydrogenase deficiency.
نویسندگان
چکیده
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzyme defect, being present in more than 400 million people worldwide. The global distribution of this disorder is remarkably similar to that of malaria, lending support to the so-called malaria protection hypothesis. G6PD deficiency is an X-linked, hereditary genetic defect due to mutations in the G6PD gene, which cause functional variants with many biochemical and clinical phenotypes. About 140 mutations have been described: most are single base changes, leading to aminoacid substitutions. The most frequent clinical manifestations of G6PD deficiency are neonatal jaundice, and acute haemolytic anaemia, which is usually triggered by an exogenous agent. Some G6PD variants cause chronic haemolysis, leading to congenital non-spherocytic haemolytic anaemia. The most effective management of G6PD deficiency is to prevent haemolysis by avoiding oxidative stress. Screening programmes for the disorder are undertaken, depending on the prevalence of G6PD deficiency in a particular community.
منابع مشابه
Intravascular Hemolysis Due to Glucose‐6‐Phosphate Dehydrogenase Deficiency in a Patient with Aluminium Phosphide Poisoning
Aluminium Phosphide poisoning and glucose‐6‐phosphate dehydrogenase deficiency are two commonly seen clinical presentations in Iran. However, hemolysis associated with Aluminium Phosphide poisoning is very rare. We report a case of concurrent Aluminium Phosphide poisoning and glucose‐6‐phosphate dehydrogenase deficiency in a 24 year old man presenting with intravascular hemolysis. Key words...
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ورودعنوان ژورنال:
- Nederlands militair geneeskundig tijdschrift
دوره 16 شماره
صفحات -
تاریخ انتشار 1963