Clinical and Haematological Parameters of Commonly Reported Non-deletional α-thalassaemia Mutations in Southeast Asia: A Review
https://doi.org/10.47836/mjmhs.18.5.26
- Author:
Divashini Vijian
1
;
Wan Suriana Wan Ab Rahman
1
,
2
;
Kannan Thirumulu Ponnuraj
1
;
Zefarina Zulkafli
2
,
3
Author Information
1. School of Dental Sciences, Universiti Sains Malaysia, 16150 Kubang Kerian Kelantan, Malaysia&
2. Hospital Universiti Sains Malaysia, 16150 Kubang Kerian Kelantan, Malaysia&
3. Department of Hematology, School of Medical Sciences, Universiti Sains Malaysia, 16150 Kubang Kerian Kelantan, Malaysia
- Publication Type:Review
- Keywords:
α-thalassaemia, Non-deletional mutations, Anaemia, Haemoglobin
- From:Malaysian Journal of Medicine and Health Sciences
2022;18(No.5):190-199
- CountryMalaysia
- Language:English
-
Abstract:
Alpha (α)-thalassaemia is a common genetic disorder worldwide caused by the deletion and rarely non-deletional
mutations of the α-globin gene. Nearly 70 types of non-deletional mutations have been reported worldwide, and this
review focuses on the common ones affecting α-thalassaemia patients. The common mutations are initiation codon
mutation, codon 30, haemoglobin (Hb) Constant Spring, Hb Quang Sze, Hb Adana and Hb Evora. The haematological parameters of non-deletional mutations usually show mild changes. However, a severe reduction in haemoglobin
level, mean corpuscular haemoglobin (MCH), mean corpuscular volume (MCV), and mean corpuscular haemoglobin count (MCHC) has been observed among compound heterozygous HbH disease, involving both deletional and
non-deletional mutations. Although non-deletional mutations are rarely reported, it requires the study of more cases
to understand the clinical phenotypes that lead to severe clinical manifestations.
- Full text:11.2022my1345.pdf
