Global distribution of β-thalassemia mutations: An update

E Rao, SK Chandraker, MM Singh, R Kumar - Gene, 2024 - Elsevier
One excellent illustration of how a single gene abnormality may result in a spectrum of
disease incidence is the incredible phenotypic variety of β-thalassemia, which spans from …

HBB gene mutations and their pathological impacts on HbE/β-Thalassaemia in Kuala Terengganu, Malaysia

HKM Saad, WRW Taib, AS Ab Ghani, I Ismail… - Diagnostics, 2023 - mdpi.com
Background: β-thalassaemia is a disorder caused by mutations in the β-globin gene, leading
to defective production of haemoglobins (Hb) and red blood cells (RBCs). It is characterised …

Molecular characterization of α-and β-thalassaemia among Malay patients

NF Mohd Yatim, M Abd. Rahim, K Menon… - International journal of …, 2014 - mdpi.com
Both α-and β-thalassaemia syndromes are public health problems in the multi-ethnic
population of Malaysia. To molecularly characterise the α-and β-thalassaemia deletions and …

Distinctive Mutation Spectrum of the HBB Gene in an Urban Eastern Indian Population

SS Sahoo, S Biswal, M Dixit - Hemoglobin, 2014 - Taylor & Francis
Hemoglobinopathies such as β-thalassemia (β-thal) and sickle cell anemia (or Hb S [β6 (A3)
Glu→ Val]) impose a major health burden in the Indian population. To determine the …

Kelainan pada Sintesis Hemoglobin: Thalassemia dan Epidemiologi Thalassemia

RD Wulandari - Jurnal Ilmiah Kedokteran Wijaya Kusuma, 2018 - journal.uwks.ac.id
Hemoglobinopati meliputi kelainan pada struktur dan gangguan sintesis hemoglobin
(thalassemia). Kelainan pada Hb ini merupakan kelainan gen tunggal yang pada awalnya …

Beta Thalassaemia mutations in Malays: A simplified cost-effective strategy to identify the mutations

E George, LK Teh, R Rosli, MI Lai… - Malaysian Journal of …, 2012 - eprints.um.edu.my
Background/Aims: Beta (β)-thalassaemia is a public health problem in Malaysia. The carrier
rate is estimated to be 4.5 by micro-mapping studies particularly among Malays who …

PCR-based screening for the most prevalent alpha 1 antitrypsin deficiency mutations (PI S, Z, and Mmalton) in COPD patients from Eastern Tunisia

S Denden, R Lakhdar, N Boudawara Keskes… - Biochemical …, 2013 - Springer
It is generally agreed that the protease inhibitor (PI) alleles PI* S (Val264Glu) and PI* Z
(Lys342Glu) are the most common alpha 1 antitrypsin deficiency variants worldwide, but the …

[HTML][HTML] Investigation of RFLP haplotypes β-globin gene cluster in beta-thalassemia patients in central Iran

Z Sajadpour, Z Amini-Farsani… - … -Oncology and Stem …, 2019 - ncbi.nlm.nih.gov
Introduction: Beta-thalassemia is one of the most prevalent inherited blood diseases among
Iranians. The aim of this study was to elucidate the chromosomal background of beta …

β-globin Gene Mutations Among β-thalassemia and β-variant patients in a teaching Hospital in Universiti Sains Malaysia, Kubang Kerian, Kelantan.

S Hassan, Z Zulkafli, RM Saleh… - Gazi Medical …, 2022 - search.ebscohost.com
Background: Thalassemia is one of the most common single gene disorders worldwide with
hundreds of mutations involving beta (β)-globin gene alone. Nevertheless, each ethnic …

The use of Taqman genotyping assays for rapid confirmation of β‐thalassaemia mutations in the Malays: accurate diagnosis with low DNA concentrations

LK Teh, TY Lee, J Tan, MI Lai… - International Journal of …, 2015 - Wiley Online Library
Summary Introduction In Malaysia, β‐thalassaemia is a common inherited blood disorder in
haemoglobin synthesis with a carrier rate of 4.5%. Currently, PCR‐incorporating techniques …