Interplay between α‐thalassemia and β‐hemoglobinopathies: Translating genotype–phenotype relationships into therapies

J Vadolas, T Nualkaew, HPJ Voon, S Vilcassim… - …, 2024 - Wiley Online Library
Abstract α‐Thalassemia represents one of the most important genetic modulators of β‐
hemoglobinopathies. During this last decade, the ongoing interest in characterizing …

[HTML][HTML] Oxidative instability of hemoglobin E (β26 Glu→ Lys) is increased in the presence of free α subunits and reversed by α-hemoglobin stabilizing protein (AHSP) …

MB Strader, T Kassa, F Meng, FB Wood, RE Hirsch… - Redox biology, 2016 - Elsevier
When adding peroxide (H 2 O 2), β subunits of hemoglobin (Hb) bear the burden of
oxidative changes due in part to the direct oxidation of its Cys93. The presence of unpaired …

The Correlation of α-Globin Gene Mutations and the XmnI Polymorphism with Clinical Severity of Hb E/β-Thalassemia

P Charoenkwan, P Teerachaimahit… - …, 2014 - Taylor & Francis
Clinical severity assessment and molecular analysis of β-, α-globin genes and the− 158 (C>
T) Xmn I polymorphism of the Gγ-globin gene were performed in 80 pediatric patients with …

α-Globin mutations and Genetic Variants in γ-globin Promoters are Associated with Unelevated Hemoglobin F Expression of Atypical β0-thalassemia/HbE

S Satthakarn, S Panyasai - Archives of Medical Research, 2024 - Elsevier
Background Excessive expression of hemoglobin F (HbF) is a characteristic feature and
important diagnostic marker of β 0-thalassemia/HbE disease. However, some patients may …

Effect of deletions in the α-globin gene on the phenotype severity of β-thalassemia

D Saha, PK Chowdhury, A Panja, D Pal, K Nayek… - …, 2022 - Taylor & Francis
Thalassemia is the most common inherited hemoglobinopathy worldwide. Variation of
clinical symptoms in this hemoglobinopathy entails differences in disease-onset and …

Hb E-β-thalassemia in five Indian states

K Italia, P Dabke, P Sawant, A Nadkarni, K Ghosh… - …, 2016 - Taylor & Francis
Abstract Hb E [β26 (B8) Glu→ Lys; HBB: c. 79G> A]-β-thalassemia (β-thal) has an extremely
variable clinical presentation. We report the clinical features of these patients from five …

Newborn screening for hemoglobinopathies using capillary electrophoresis

PC Giordano - … Applications of Capillary Electrophoresis: Methods and …, 2013 - Springer
This chapter reports the essential elements needed to understand basic laboratory
diagnostics consisting of separation and measurement of the hemoglobin fractions …

Detection of− α 3.7 and _ _SEA deletions in α-globin gene in the Bangladeshi population

M Tasnim, J Ferdous, K Mannoor, F Qadri, MI Hosen… - 2024 - researchsquare.com
Background: α-thalassemia, resulting largely from deletions in the α-globin chain of
hemoglobin, is one of the most common inherited blood disorders among the Asian …

[PDF][PDF] A Family Based Whole Exome Sequence Study to Identify Modifier Genes for Phenotype Heterogeneity Between Severe and Non-Severe Thalassemia Patients

D Saha, D Pal, PK Chowdhury, K Nayek… - 2023 - scholar.archive.org
Thalassemia is a common monogenic autosomal disorder prevalent in India. HbE beta
thalassemia is a compound heterozygous state of two different beta globin mutations (HBB) …

Developing genome-editing strategies to ameliorate HbE/beta-thalassaemia

M Badat - 2021 - ora.ox.ac.uk
The thalassaemias are the most common monogenic disorders worldwide. Both α-and β-
thalassaemia are caused by genetic mutations that result in a decrease in globin gene …