نتایج جستجو برای: g6pd enzyme deficiency
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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...
Background and purpose: Despite wide fight against malaria in endemic regions, it is still one of the most serious infectious diseases in some parts of the world. Primakin is effective in treatment and prevention of malaria. However, individuals with glucose-6-phosphate dehydrogenase (G6PD) deficiency are at risk for hemolysis and its complications when taking primakin. This study was performe...
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an enzymopathy affecting about 400 millionpeople worldwide. The distribution of G6PD deficiency and the molecular genetics of this enzyme vary widelyamong different ethnic groups. The aim of this study was to find out the frequency of G6PD deficiency andcharacterize the Mediterranean type mutation in deficient individuals ...
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a frequent X-chromosome-linked enzyme abnormality. G6PD is the first key enzyme in the pentose phosphate metabolic pathway and is involved in the generation of NADPH, which is indispensable for biosynthesis of reduced glutathione (GSH). GSH prevents hemoglobin denaturation, preserves the integrity of red blood cell (RBC) membrane sulfhy...
Background: The purpose of this study was to determine the prevalence of G6PD deficiency in infants with jaundice in Khalij-Fars Hospital of Bandar Abbas in 2015. Methods: In this descriptive-analytic cross-sectional study, which is done in 2015 in Khalij-Fars Hospital of Bandar-Abbas, 226 infants with jaundice were entered. Admission age, hospitalization time, gender, age of birth, birth weig...
BACKGROUND Glucose-6-Phosphate dehydrogenase (G6PD) is a key enzyme of the pentose monophosphate pathway, and its deficiency is the most common inherited enzymopathy worldwide. G6PD deficiency is common among Iraqis, including those of the Kurdish ethnic group, however no study of significance has ever addressed the molecular basis of this disorder in this population. The aim of this study is t...
Newborn screening for Glucose-6-Phosphate Dehydrogenase Deficiency in Eastern Province, Saudi Arabia
Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency is an x-linked recessive disorder expressed mostly in males. Patients with G6PD deficiency may present clinically with evidence of hemolytic anemia in the neonatal period or later in life, or may remain asymptomatic. The aim of this study was to determine the incidence of G6PD deficiency in Saudi infants screened at birth. All Saudi infants bo...
INTRODUCTION This study aimed to compare the detection rates of glucose-6-phosphate dehydrogenase (G6PD) deficiency in neonates by fluorescent spot test (FST), enzyme assay and molecular methods, and to identify which method was a significant predictor of severe hyperbilirubinaemia. METHODS 74 term infants of Chinese descent admitted with severe hyperbilirubinaemia (total serum bilirubin equa...
I NVESTJGATIONS OF RED CELL GLUCOSE-6-PHOSPHATE DEHYDROGENASE ( D-glucose-6-phosphate: NADP oxidoreductase, EC 1.1.1.49; G6PD ) in different human populations have shown that more than 50 variants exist at this time.1’2 Genetic studies are compatible with X-linkage of all G6PD variants. Some variants are associated with normal enzyme activity and therefore are not accompanied by any clinical ma...
INTRODUCTION Glucose-6-phosphate dehydrogenase deficiency (G6PD) is an X-linked genetic disorder with a relatively high frequency in malaria-endemic regions. It is an obstacle to malaria elimination, as primaquine administered in the treatment of malaria can cause hemolysis in G6PD-deficient individuals. This study presents information on the prevalence of G6PD deficiency in Sistan and Balouche...
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