Journal Article

G6PD Deficiency and G6PD (Mediterranean and Silent) Polymorphisms in Egyptian Infants with Neonatal Hyperbilirubinemia

Zahraa M. Ezz El-Deen, Nouran F. Hussin, Tamer A. Abdel Hamid, Osman R. Abdel Migeed and Rania M. Samy

in Laboratory Medicine

Published on behalf of American Society for Clinical Pathology

Volume 44, issue 3, pages 228-234
Published in print August 2013 | ISSN: 0007-5027
Published online September 2015 | e-ISSN: 1943-7730 | DOI: http://dx.doi.org/10.1309/LMQOSC1RY6ECTDU2
G6PD Deficiency and G6PD (Mediterranean and Silent) Polymorphisms in Egyptian Infants with Neonatal Hyperbilirubinemia

More Like This

Show all results sharing these subjects:

  • Haematology
  • Clinical Cytogenetics and Molecular Genetics
  • Molecular and Cell Biology
  • Molecular Biology and Genetics

GO

Show Summary Details

Preview

Objective:

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common inherited cause of neonatal hemolytic anemia and jaundice. We investigated the prevalence of G6PD deficiency (Mediterranean and silent) polymorphisms in Egyptian infants with neonatal hyperbilirubinemia.

Methods:

Fifty full-term infants with neonatal jaundice were included. All patients were subjected to a routine hematologic evaluation, total and indirect serum bilirubin levels, direct Coombs test, qualitative evaluation of G6PD enzyme activity, and detection of G6PD Mediterranean and silent mutations by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique.

Results:

There were 21 (42%) patients who were G6PD deficient; 29 (58%) had normal activity of the enzyme. Among the G6PD deficient patients, 7/21 (33.3%) had Mediterranean mutation and 6/21 (28.6%) had silent mutation.

Conclusion:

Our findings, together with other reports, provide data on the prevalence of the Mediterranean variant in Egyptian infants. Further characterization of the G6PD variants requires molecular studies, including analysis of the entire G6PD coding sequence.

Keywords: G6PD deficiency; Egyptian neonates; G6PD Mediterranean mutation; G6PD silent mutation

Journal Article.  3946 words.  Illustrated.

Subjects: Haematology ; Clinical Cytogenetics and Molecular Genetics ; Molecular and Cell Biology ; Molecular Biology and Genetics

Full text: subscription required

How to subscribe Recommend to my Librarian

Users without a subscription are not able to see the full content. Please, subscribe or login to access all content.