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342466

Assessment of the Frequency of the G6PD Mediterranean Gene Mutation 563 C→T (rs5030868) in Children attending Suez Canal University Hospital

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Last updated: 04 Jan 2025

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Clinical Research (Medical)

Abstract

Background:Glucose-6-phosphate dehydrogenase (G6PD) deficiency is known to be the most common enzymopathy in the world affecting ~7% of the global population. The G6PDgene, located in the long arm of chromosome X (Xq28), consists of 13 exons and 12 introns encoding 515 amino acids. Over 200 G6PDmutations have been reported worldwide, where 140 mutations or combined mutations are found to be hematologically important. Aim:To assess the frequency of the G6PD Mediterranean (Med) gene mutation 563 C→T in children attending Suez Canal University Hospital and its relation to G6PD silent gene mutation 1311 C→T. Subjects and Methods: This study was conducted on 50 G6PD deficiency patients who were previously diagnosed and confirmed by quantification of G6PD enzyme activity, 44 of them were males while 6 patients were females. The control group was 20 apparently healthy children with matched age and sex with the patients' group. Each of the study groups was tested for the following: complete blood count, G6PD enzyme activity quantification, and testing the presence or absence of the G6PD Med gene mutation and G6PD silent gene mutation using real-time PCR. Results: The current study shows the incidence of G6PDMed gene mutation in 26 patients (52%) and that 96.2% of G6PD patients with G6PD Med gene mutation had G6PD silent gene mutation. Conclusion: The current study shows the incidence of G6PD Med gene mutation in 52% of patients and that 96.2% of G6PD patients with Med Gene mutation had G6PD silent gene mutation. The presence of either G6PD Med gene mutation or both G6PD Med gene mutation and G6PD silent gene mutation together were insignificant in the prediction of G6PD status whether diseased or not. G6PD deficiency could be a consequence of a complex multifactorial mechanism probably related to both environmental factors and genetic modifiers.
 

DOI

10.21608/scumj.2023.342466

Keywords

G6PD, Mediterranean, Anemia, Mutation

Authors

First Name

Ahmed A.

Last Name

Elhadidy

MiddleName

-

Affiliation

Department of Clinical Pathology, Faculty of Medicine, Suez Canal University, Egypt

Email

dr.ahabobakr@gmail.com

City

-

Orcid

-

First Name

Alaa ELdin S.

Last Name

Abdelhamid

MiddleName

-

Affiliation

Department of Clinical Pathology, Faculty of Medicine, Suez Canal University, Egypt

Email

-

City

-

Orcid

-

First Name

Fadia M.

Last Name

Attia

MiddleName

-

Affiliation

Department of Clinical Pathology, Faculty of Medicine, Suez Canal University, Egypt

Email

-

City

-

Orcid

-

First Name

Gehan

Last Name

Ibrahim

MiddleName

-

Affiliation

Department of Clinical Pathology, Faculty of Medicine, Suez Canal University, Egypt

Email

gehkarem@yahoo.com

City

-

Orcid

-

First Name

Marwa A.

Last Name

Ibrahim

MiddleName

-

Affiliation

Department of Pediatrics, Faculty of Medicine, Suez Canal University, Egypt

Email

-

City

-

Orcid

-

Volume

26

Article Issue

1

Related Issue

39420

Issue Date

2023-01-01

Receive Date

2024-02-21

Publish Date

2023-01-01

Page Start

100

Page End

106

Print ISSN

1110-6999

Online ISSN

2090-2581

Article File

SCUMJ_Volume 26_Issue 1_Pages 100-106.pdf

PDF . 352.4kB

Link

https://scumj.journals.ekb.eg/article_342466.html

Detail API

https://scumj.journals.ekb.eg/service?article_code=342466

Order

12

Type

Original Article

Type Code

938

Publication Type

Journal

Publication Title

Suez Canal University Medical Journal

Publication Link

https://scumj.journals.ekb.eg/

MainTitle

Assessment of the Frequency of the G6PD Mediterranean Gene Mutation 563 C→T (rs5030868) in Children attending Suez Canal University Hospital

Details

Type

Article

Created At

24 Dec 2024