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

BMC Hematology

Hanan Hamamy⁴  Jaladet MS Jubrael³  Adil A Eissa¹  Ban A Abdul-Majeed²  Nasir Al-Allawi¹  Bassam MS Al-Musawi² 

[1] Department of Pathology, College of Medicine, University of Dohuk, Azadi Hospital road, 1014 AM Dohuk, Iraq;Department of Pathology, College of Medicine, University of Baghdad, Baghdad, Iraq;Scientific Research Center, University of Dohuk, Dohuk, Iraq;Department of Genetic Medicine and Development, Geneva University Hospital, Geneva, Switzerland

关键词: G6PD Chatham;    G6PD Mediterranean;    Iraq;    Baghdad;    Arabs;    G6PD deficiency;   

Others  :  865401
DOI  :  10.1186/1471-2326-12-4

 received in 2011-08-26, accepted in 2012-03-27,  发布年份 2012

【 摘 要 】

Background

Although 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.

Methods

A 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.

Results

G6PD 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%).

Conclusions

Three 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.

【 授权许可】

   
2012 Al-Musawi et al; licensee BioMed Central Ltd.

【 图 表 】

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