Molecular characterization of glucose-6-phosphate dehydrogenase deficient variants in Baghdad city - Iraq

Bassam Ms Al-Musawi,Adil A Eissa,Nasir Al-Allawi,Jaladet Ms Jubrael,Hanan Hamamy,Ban A Abdul-Majeed

doi:10.1186/1471-2326-12-4

Bassam Ms Al-Musawi, Adil A Eissa + Show 4 more

Open Access

https://doi.org/10.1186/1471-2326-12-4

Copy DOI

Abstract

BackgroundAlthough G6PD deficiency is the most common genetically determined blood disorder among Iraqis, its molecular basis has only recently been studied among the Kurds in North Iraq, while studies focusing on Arabs in other parts of Iraq are still absent.MethodsA total of 1810 apparently healthy adult male blood donors were randomly recruited from the national blood transfusion center in Baghdad. They were classified into G6PD deficient and non-deficient individuals based on the results of methemoglobin reduction test (MHRT), with confirmation of deficiency by subsequent enzyme assays. DNA from deficient individuals was studied using a polymerase chain reaction-Restriction fragment length polymorphism (PCR-RFLP) for four deficient molecular variants, namely G6PD Mediterranean (563 C→T), Chatham (1003 G→A), A- (202 G→A) and Aures (143 T→C). A subset of those with the Mediterranean variant, were further investigated for the 1311 (C→T) silent mutation.ResultsG6PD deficiency was detected in 109 of the 1810 screened male individuals (6.0%). Among 101 G6PD deficient males molecularly studied, the Mediterranean mutation was detected in 75 cases (74.3%), G6PD Chatham in 5 cases (5.0%), G6PD A- in two cases (2.0%), and G6PD Aures in none. The 1311 silent mutation was detected in 48 out of the 51 G6PD deficient males with the Mediterranean variant studied (94.1%).ConclusionsThree polymorphic variants namely: the Mediterranean, Chatham and A-, constituted more than 80% of G6PD deficient variants among males in Baghdad. Iraq. This observation is to some extent comparable to other Asian Arab countries, neighboring Turkey and Iran.

Highlights

Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency is the most common genetically determined blood disorder among Iraqis, its molecular basis has only recently been studied among the Kurds in North Iraq, while studies focusing on Arabs in other parts of Iraq are still absent
They were classified into G6PD deficient and G6PD non-deficient individuals according to the result of Methemoglobin Reduction Test (MHRT) [13]
The current study revealed that the most common G6PD deficient molecular variant was G6PD Mediterranean detected in 74.3% of deficient males

Summary

Introduction

G6PD deficiency is the most common genetically determined blood disorder among Iraqis, its molecular basis has only recently been studied among the Kurds in North Iraq, while studies focusing on Arabs in other parts of Iraq are still absent. G6PD is a house keeping enzyme that is expressed in all tissues, clinical manifestations of its deficiency are seen almost exclusively in red cells (RBC) including: neonatal jaundice. G6PD enzyme (G6PD) is known to protect RBCs from the harmful effects of reactive oxygen species. Mutations in G6PD gene that reduce the amount of G6PD enzyme or alter its structure cause hemolytic anemia as a result of accumulation of reactive oxygen species [2]. G6PD deficiency has been reported in almost all racial groups with prevalence rates ranging from less than 1% in Japan and Northern European populations to a high of 58% in Kurdish Jews [5,6,7]. High rates of G6PD deficiency have been reported from the Mediterranean Littoral, Middle East, Africa and south and south East Asia [1]

Objectives

Methods

Results

Discussion

Conclusion