molecular basis of g6pd deficiency: current status and its perspective
نویسندگان
چکیده
glucose-6-phosphate dehydrogenase is an essential enzyme to cell growth. its deficiency of enzyme plays an important role in senescence and death signaling. also, it is actually the most common clinically important enzyme defect, not only in hematology, but also among all human known diseases. clinical consequences of enzyme deficiency are: neonatal hyperbilirubinemia, acute hemolytic anemia, and chronic hemolytic anemia. the enzyme gene spans 18 kb on the x chromosome (xq28) and contains 13 exons. its promoter is embedded in a cpg island that is conserved from mice to humans. the development of a number of pcr-based methods for the detection of known mutations in glucose-6-phosphate dehydrogenase has made it possible to detect enzyme deficiency and identify the specific mutation responsible with relative ease. we will discuss the mentioned clinical manifestations of glucose-6-phosphate dehydrogenase deficiency, genetics, biochemistry and pathophysiology of the enzyme in details using newer published data and present most of the studies in iranian population.
منابع مشابه
Functional and Biochemical Analysis of Glucose-6-Phosphate Dehydrogenase (G6PD) Variants: Elucidating the Molecular Basis of G6PD Deficiency
G6PD deficiency is the most common enzymopathy, leading to alterations in the first step of the pentose phosphate pathway, which interferes with the protection of the erythrocyte against oxidative stress and causes a wide range of clinical symptoms of which hemolysis is one of the most severe. The G6PD deficiency causes several abnormalities that range from asymptomatic individuals to more seve...
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15 صفحه اولG6PD deficiency.
T HIRTY-FIVE YEARS ago Dr William Dameshek, the first editor of the emerging journal Blood, invited me to write a review on “The Hemolytic Effect of Primaquine.”’ At the time, primaquine sensitivity, which had just recently been shown to be caused by a deficiency of the enzyme glucose-6-phosphate dehydrogenase (G6PD); represented a unique example of an inherited deficiency of an enzyme that cau...
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عنوان ژورنال:
acta medica iranicaجلد ۴۶، شماره ۳، صفحات ۱۶۷-۱۸۲
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