Glucose 6-phosphate dehydrogenase deficiency: from genotype to phenotype.

نویسنده

  • Lucio Luzzatto
چکیده

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Glucose-6-phosphate dehydrogenase deficiency: correlation between the genotype, biochemistry and phenotype.

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 b...

متن کامل

SPREAD 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 کامل

Prevalence of Glucose-6-phosphate Dehydrogenase (G6PD) Deficiency in Jiroft City in Southern Iran

Background and Aims: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a global problem and the most common cause of jaundice in neonates. Hence, this study was conducted to investigate the prevalence of G6PD deficiency in Jiroft city in southern Kerman. Materials and Methods: This descriptive cross-sectional study was carried out from 2016 to 2019. Blood samples were taken from all patie...

متن کامل

Prevalence of Glucose-6-Phosphate Dehydrogenase Deficiency among Male Donors in Shiraz, Southern Iran

The overall incidence of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Iranian population is estimated around 10%-14.9%. G6PD deficiency is an X-linked disorder and 80% of donors are usually male. At present, donors’ blood is not routinely screened for G6PD deficiency in Iran blood bank where for detecting such enzyme deficiency, reliance is placed on pre-donation data. Thus, the G6PD ...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:
  • Haematologica

دوره 91 10  شماره 

صفحات  -

تاریخ انتشار 2006