Glucose-6-phosphate dehydrogenase deficiency: correlation between the genotype, biochemistry and phenotype.
نویسنده
چکیده
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common genetic enzyme defect present in many people from African, Middle Eastern, Mediterranean and Asian countries. Individuals with the enzyme deficiency may remain asymptomatic, develop an acute haemolytic crises to infections or Fava beans, neonatal jaundice or chronic non-spherocytic haemolytic anaemia. Electrophoretic mobility may be fast, slow or normal. Over 160 mutations have been described, mostly due to single amino acid substitution. Although correlation of the genotype and biochemistry with the clinical phenotype of G6PD deficient individuals remains somewhat variable, there is better correlation among individuals presenting with chronic non-spherocytic haemolytic anaemia, which is related to the NADP structure of the enzyme.
منابع مشابه
Clinical Manifestations of Acute Hemolysis in Children with Glucose-6-Phosphate Dehydrogenase Deficiency in Fars Province, Iran
Background: Absence or deficiency in Glucose-6-phosphate dehydrogenase (G6PD) enzyme in patients with G6PD deficiency presents with a wide spectrum of symptoms. This study evaluates the clinical features of acute hemolysis in children with G6PD deficiency. Materials and Methods: Seventy G6PD deficient children younger than 18 years old were included in this cross sectional study in Dastgheib H...
متن کاملPossible Association between Glucose-6-Phosphate Dehydrogenase Deficiency and the Development of Preeclampsia
Glucose-6-Phosphate dehydrogenase (G6PD) deficiency is a common enzyme deficiency in the world. It's Prevalence inIranis about 12% in male & about 1% in female. The present study did examine the relation between the development of preeclampsia and G6PD deficiency. It was investigated whether or not the risk of preeclampsia in G6PD deficient women is higher than that in normal pregnant women.A t...
متن کاملSPREAD OF THE GLUCOSE-6-PHOSPHATE DEHYDROGENASE VARIANT (G6PD-MEDITERRANEAN) IN ONE OF THE COASTAL PROVINCES OF CASPIAN SEA IN IRAN
In order to explore the nature of glucose-6-phosphate dehydrogenase (G6PD) deficiency in one of the coastal provinces of the Caspian Sea (Mazandaran) in Iran, we have analysed the G6PD gene in 74 unrelated G6PD-deficient males (2-6 year children) with a history of Favism, by using PCR and subsequent digestion by appropriate restriction enzymes, looking for the presence of certain known mutation...
متن کاملGlucose-6-Phosphate Dehydrogenase Deficiency and Neonatal Hyperbilirubinemia
Background: Jaundice is affecting over 60-80 percent of neonates in the first week of life. Glucose-6-phosphate dehydrogenase (G6PD) deficiency, which is an important cause of pathologic hyperbilirubinemia, can lead to hemolytic anemia, jaundice and kernicterus. The present study was performed to determine the prevalence of G6PD deficiency among icteric neonates in Shirvan, Iran. Methods: This...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
- Annals of the Academy of Medicine, Singapore
دوره 37 12 Suppl شماره
صفحات -
تاریخ انتشار 2008