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179787

Detoxification Genomics in Children with β-Thalassemia Major: Pilot Study of Glutathione S Transferase M1, Pi & Methyltetrahydrofolate Reductase Gene Polymorphisms Combinations in β- Thalassemia Major

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Last updated: 22 Jan 2023

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Abstract

Background: Children with β-thalassemia major differ regarding age at presentation, transfusion requirements and unpredictable timing, rate and severity of hemolytic crisis. The blood transfusions are associated with iron overload.  Glutathione S transferase M1 (GSTM1) null mutation was reported to be associated with myocardial iron overload with low body iron. 
Aim of the Work: To investigate if children with β-thalassemia major have more than a detoxification enzyme defect.
Materials and Methods: GSTM1, glutathione S transferase Pi (GSTPi) and methyltetrahydrofolate reductase (MTHFR) polymorphism were studied among 97 children with β-thalassemia major in a cross-sectional study.
Results: The studied cohort comprised 24 (24.7%) girls and 73 (75.3%) boys. Mean hemoglobin was 5.9+/- 0.7gm%, serum iron was 145.69 +/- 58.6 mcg% and total iron binding capacity was 222.58 +/-50.66 mcg%. Of them, 68 (70.1%) demonstrated single or multiple polymorphisms (43 had GSTM1, 20 GSTPi and 32 with MTHFR polymorphisms respectively), while 29 (29.2%) did not demonstrate any polymorphism. There was no correlation between type, number of polymorphisms and clinical phenotype. Sample size and cross- sectional nature of our study did not allow genotype-phenotype correlation. Most of studied children express GSTM1, GSTPi and MTHFR gene polymorphism which was not consistent among them. 
Conclusion: Children with β-thalassemia major may have one or more than a detoxification/ regeneration potential enzyme gene GSTM1, GSTPi and MTHFR polymorphism. Every child with β-thalassemia major has unique genetic detoxification and regeneration abilities. The detected detoxification defects might explain the lack of predictability of occurrence of hemolytic attacks and their severity. More studies are needed to highlight impact of detoxification and regeneration genomics in β-thalassemia.

DOI

10.21608/cupsj.2021.55630.1011

Keywords

Glutathione S transferase M1 (GSTM1), glutathione S transferase Pi (GSTPi), me-thyltetrahydrofolate reductase (MTHFR), Polymorphism, β-Thalassemia

Authors

First Name

Magd

Last Name

Kotb

MiddleName

A.

Affiliation

Department of Pediatrics, Faculty of Medicine, Cairo University, Egypt.

Email

magdkotb@kasralainy.edu.eg

City

-

Orcid

https://orcid.org/00

First Name

Mona

Last Name

Hamdy

MiddleName

-

Affiliation

Department of Pediatrics, Faculty of Medicine, Cairo University, Egypt.

Email

mona.hamdy@staff.cu.edu.eg

City

-

Orcid

-

First Name

Khaled

Last Name

Eid

MiddleName

-

Affiliation

Department of Pediatrics, Faculty of Medicine, Cairo University, Egypt.

Email

khaled.eid@netscape.net

City

-

Orcid

-

First Name

Mona

Last Name

Aziz

MiddleName

-

Affiliation

Clinical Pathology Department, Faculty of Medicine, Cairo University, Cairo, Egypt

Email

drmona16_16@hotmail.com

City

-

Orcid

-

First Name

Mai

Last Name

Abd El Salam

MiddleName

-

Affiliation

Department of Pediatrics, Faculty of Medicine, Cairo University, Egypt.

Email

mai_abdelsalam84@yahoo.com

City

-

Orcid

-

First Name

Hend

Last Name

Abd El Baky

MiddleName

-

Affiliation

Department of Pediatrics, Faculty of Medicine, Cairo University, Egypt.

Email

hend.elhossainy@cu.edu.eg

City

Cairo

Orcid

https://orcid.org/my

First Name

Nabil

Last Name

Lotfi

MiddleName

-

Affiliation

Undergraduate Student, Faculty of Medicine, Cairo University, Egypt

Email

nabil-lotfy@students.kasralainy.edu.eg

City

-

Orcid

-

First Name

Niveen

Last Name

Salama

MiddleName

-

Affiliation

Department of Pediatrics, Faculty of Medicine, Cairo University, Egypt.

Email

niveensab@yahoo.com

City

-

Orcid

0000 0001 6491 9954

Volume

1

Article Issue

2

Related Issue

25899

Issue Date

2021-07-01

Receive Date

2021-01-09

Publish Date

2021-07-01

Page Start

98

Page End

106

Print ISSN

2805-279X

Online ISSN

2682-3985

Article File

CUPSJ_Volume 1_Issue 2_Pages 98-106.pdf

PDF . 862.7kB

Link

https://cupsj.journals.ekb.eg/article_179787.html

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https://cupsj.journals.ekb.eg/service?article_code=179787

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6

Type

Original Research

Type Code

1,229

Publication Type

Journal

Publication Title

Pediatric Sciences Journal

Publication Link

https://cupsj.journals.ekb.eg/

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Article

Created At

22 Jan 2023