The Clinical and Laboratory Profiles of a Deletional α2-Globin Gene Polyadenylation Signal Sequence (AATAAA > AATA--) [HBA2:c.93_94delAA]: The Malaysian Experience

Poly A (AATAAA > AATA--) [HBA2:c.*93_*94delAA] is a rare α-variant reported in our population. It is caused by 2 bp deletion (--AA) in the α2 poly A sequence, leading to a significant α–thalassaemia phenotype. <b>Background/Objectives</b>: This study describes the haematological param...

Full description

Bibliographic Details
Published in:	Diagnostics
Main Authors:	Norafiza Mohd Yasin, Syahzuwan Hassan, Nur Aisyah Aziz, Faidatul Syazlin Abdul Hamid, Ezalia Esa, Ezzanie Suffya Zulkefli, Rohana Ghazali, Syirah Nazirah Tajuddin, Mohd Nazif Darawi, Yuslina Mat Yusoff, Cornelis L. Harteveld
Format:	Article
Language:	English
Published:	MDPI AG 2025-05-01
Subjects:	non-deletional α-thalassaemia polyadenylation mutation AATA( > AA) Hb H disease
Online Access:	https://www.mdpi.com/2075-4418/15/10/1284

Similar Items

Molecular and hematological studies in a cohort of beta zero South East Asia deletion (β°-thal SEA) from Malaysian perspective
by: Norafiza Mohd Yasin, et al.
Published: (2022-11-01)

Characterization of New Alpha Zero (α<sup>0</sup>) Thalassaemia Deletion (−−<sup>GB</sup>) among Malays in Malaysian Population
by: Norafiza Mohd Yasin, et al.
Published: (2023-10-01)

AaTAS1 and AaMFS1 Genes for Biosynthesis or Efflux Transport of Tenuazonic Acid and Pathogenicity of Alternaria alternata
by: Fan Sun, et al.
Published: (2022-05-01)

Gene Mutation Spectrum among Alpha-Thalassaemia Patients in Northeast Peninsular Malaysia
by: Divashini Vijian, et al.
Published: (2023-02-01)

The disease burden of β-thalassaemia revisited
by: Elpidoforos S. Soteriades, et al.
Published: (2025-12-01)

Extramedullary haematopoiesis in patients with transfusion dependent β-thalassaemia (TDT): a systematic review
by: Eihab A. Subahi, et al.
Published: (2022-12-01)

The worldwide molecular spectrum and distribution of thalassaemia: a systematic review
by: Mina Ebrahimi, et al.
Published: (2021-05-01)

Juggling between the Cost and Value of New Therapies: Does Science Still Serve Patient Needs?
by: Androulla Eleftheriou, et al.
Published: (2023-01-01)

Alloimmunization in Transfusion Dependent Thalassaemic Patients.
by: Saad H. Ahmed, et al.
Published: (2010-04-01)

Redesigning New Policy Options for Thalassemia Prevention in Sri Lanka
by: Nadeeja Amarasinghe, et al.
Published: (2022-10-01)

The Prevalence of the Beta Thalassemia Trait among the Pregnant Women who attended the ANC Clinic in a PHC, by using the NESTROF Test in Bangalore, Karnataka
by: Praveen Kulkarni, et al.
Published: (2013-07-01)

B- thalassemia children and quality of life: Does the present condition justify ‎children’s quality of life?‎
by: simin tahmasbi, et al.
Published: (2007-04-01)

The “Thal-index” with the BTT prediction.exe to discriminate Beta thalassaemia traits from other microcytic anaemias.
by: Nilanga Nishad
Published: (2014-08-01)

Evaluation of Alendronate Efficacy on Bone Mineral Density in Thalassemic Patients
by: Fatemeh Shirani, et al.
Published: (2012-10-01)

Common Β- Thalassaemia Mutations in Northwestern Iran
by: MA Hossainpour-Faizi, et al.
Published: (2005-01-01)

Screening for thalassemia and other hemoglobinopathies in a tertiary care hospital of West Bengal: Implications for population screening
by: Bhawna Bhutoria Jain, et al.
Published: (2012-01-01)

A case of beta-thalassaemia major resistant to standard treatment
by: Nicoletta Masera, et al.
Published: (2010-06-01)

The study of relationships between β-globin gene mutations in β-thalassaemia patients, in response to hydroxyurea treatment
by: S. Zeinali, et al.
Published: (2008-01-01)

Double heterozygosity of the thalassemic mutations term. Cd +6 C→G and IVS-I-110 in a Greek woman: A case presentation
by: Stamatia Theodoridou, et al.
Published: (2011-12-01)

Biochemical and imaging markers in patients with thalassaemia
by: Maria Vlachou, et al.
Published: (2021-01-01)

Haematologists as Genetic Counsellors for Haemoglobinopathies: Are They Prepared?
by: Michael Angastiniotis, et al.
Published: (2025-09-01)

Analysis of Haemoglobin Profile in Haemoglobinopathies by High Performance Liquid Chromatography and Capillary Zone Electrophoresis Methods: A Cross-sectional Study
by: Pallavi Kommoju, et al.
Published: (2025-04-01)

Effectiveness of an Educational Health Programme on Mothers' Knowledge of Thalassaemic Children Who Receiving Desferal Therapy in Hawler Thalassemia Center/ Erbil City
by: Kareema Ahmad Hussein, et al.
Published: (2013-12-01)

The Importance of Molecular Biological Analysis for the Laboratory Diagnostic of Homozygous Haemoglobin Malay
by: Bahar R, et al.
Published: (2024-09-01)

Iron Deficiency Anaemia and Beta Thalassaemia Trait in Anaemic Pregnant Women.
by: Haider H. AL – Shammari
Published: (2010-10-01)

New Insights in β-Thalassaemia
by: Etienne Paubelle, et al.
Published: (2019-08-01)

Evaluation and cost analysis of national health policy of thalassaemia screening in west-azerbaijan province of Iran
by: Elham Ahmadnezhad, et al.
Published: (2012-01-01)

Place for elective cholecystectomy for patients with severe thalassaemia: a retrospective case control study
by: Anuja Premawardhena, et al.
Published: (2019-04-01)

Pattern of Haemoglobin Disorders
by: Samina Amanat
Published: (2012-06-01)

The safety and effectiveness of genetically corrected iPSCs derived from β-thalassaemia patients in nonmyeloablative β-thalassaemic mice
by: Yexing Xian, et al.
Published: (2020-07-01)

Clinical and haematological characteristics of 38 individuals with Hb G‐Makassar in Malaysia
by: Ezalia Esa, et al.
Published: (2023-11-01)

Non-invasive Sampling for Assessment of Oxidative Stress and Pro-inflammatory Cytokine Levels in Beta-Thalassaemia Major Patients
by: Rahim Mohd. Rashdan Abd., et al.
Published: (2016-03-01)

Haematopoietic stem cell transplantation in thalassaemia major: A narrative review
by: Rabeya Yousuf, et al.
Published: (2023-01-01)

The impact of chelation compliance in health outcome and health related quality of life in thalassaemia patients: a systematic review
by: Wan Jin Lee, et al.
Published: (2024-02-01)

A Rare Case of Pulmonary Neuroendocrine Carcinoma in Transfusion-dependent Thalassemia Patient: Clinical Presentation, Management, and Implications
by: Lia Sasmithae, et al.
Published: (2024-10-01)

The Efficacy and Safety of Sofosbuvir Containing Regimen in the Treatment of Hcv Infection in Patients with Haemoglobinopathy
by: Nawfal R Hussein
Published: (2017-01-01)

THALASSAEMIA INTERMEDIA : AN UPDATE
by: Ali Taher, et al.
Published: (2009-08-01)

Application of next-generation sequencing in thalassemia screening: A systematic review and meta-analysis
by: Xingyi Fang, et al.
Published: (2023-01-01)

THALASSAEMIA INTERMEDIA : AN UPDATE
by: Maria Domenica Cappellini, et al.
Published: (2009-06-01)

Morbidity and mortality patterns in patients with thalassaemia during the COVID-19 pandemic in Sri Lanka; A single centre experience
by: R. Nisansala, et al.
Published: (2022-01-01)