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284910

The Impact of Genotype on Bone Complications in Beta Thalassemia Major Patients.

Article

Last updated: 01 Jan 2025

Subjects

-

Tags

Pediatrics

Abstract

Background: Specific genetic mutations in β‑thalassemia lead to complete lack of β‑globin chain production, considered as β° thalassemia, others allow some synthesis of the β-globin and are known as β+ thalassemia. Patients need regular blood transfusions to correct anemia and iron-chelating therapy, to control iron overload. Severe anemia, along with excess body iron, and chelation therapy, can result in complications, as bone abnormalities, growth retardation, liver, cardiac, and endocrine disorders.Methods: Cross sectional study subjected to record the impact of genotype on occurrence of bone complications in β thalassemia cases, while 50 thalassemic cases involved from july 2017 to June 2018. DNA sequencing allowed for the cases' genotype identification. Bone density is evaluated using a dexa scan, translated into a Z-score compared to an appropriate reference, as well as bone imaging and laboratory investigations, which all evaluated as biochemical variables. Results: Low bone mineral density was the commonest bone complication, while osteoprosis and osteopenia represented 34% and 28% respectively, other bone problems presented in 16% of cases. Additionally, a positive correlation between occurrence of osteoporosis and older patients, longer transfusion times, high ferritin levels, and longer transfusion gaps. The three most common mutations discovered were IVS1-110, IVS1-1, and IVS1-6 (28, 26, and 16%, respectively). The β°β° genotype showed a significantly high incidence of complications and low bone density compared to those with β°β+ and β+β+ genotypes.Conclusion: bone complications are common association in β-thalassemia major cases with a clear correlation between genotype and clinical disease progression as well as its severity.

DOI

10.21608/zumj.2023.189467.2731

Keywords

Beta-thalassemia major, genotype, bone density, DEXA scan

Authors

First Name

ali

Last Name

Abdo

MiddleName

abdel-hameed

Affiliation

Professor of Pediatrics, Pediatric Department, Faculty of Medicine, Zagazig University, Sharkia, Egypt.

Email

alimancy@yahoo.com

City

-

Orcid

-

First Name

Mohamed

Last Name

Beshir

MiddleName

Refaat

Affiliation

Pediatric department , faculty of medicine Zagazig university

Email

moh_besher74@yahoo.com

City

-

Orcid

-

First Name

Tamer

Last Name

Hassan

MiddleName

-

Affiliation

Assistant Professor of Radiodiagnosis, Radiology Department, Faculty of Medicine, Zagazig University, Sharkia, Egypt.

Email

tamirhaq@yahoo.com

City

Zagazig

Orcid

0000000204418418

First Name

Amr

Last Name

Mohamed

MiddleName

Abd EL Aziz Hanafi

Affiliation

Al-Ahrar Teaching Hospital,MBBCH ,Faculty of Medicine, Zagazig University, Sharkia, Egypt. Master of Pediatrics, Pediatric Department, Zagazig University, Sharkia, Egypt

Email

amr81_elgamal@yahoo.com

City

-

Orcid

0000-0002-6178-3286

Volume

30

Article Issue

3

Related Issue

46681

Issue Date

2024-05-01

Receive Date

2023-01-26

Publish Date

2024-05-01

Page Start

935

Page End

945

Print ISSN

1110-1431

Online ISSN

2357-0717

Link

https://zumj.journals.ekb.eg/article_284910.html

Detail API

https://zumj.journals.ekb.eg/service?article_code=284910

Order

37

Type

Original Article

Type Code

273

Publication Type

Journal

Publication Title

Zagazig University Medical Journal

Publication Link

https://zumj.journals.ekb.eg/

MainTitle

The Impact of Genotype on Bone Complications in Beta Thalassemia Major Patients.

Details

Type

Article

Created At

30 Dec 2024