Thalassaemia

A Kattamis, JL Kwiatkowski, Y Aydinok - The lancet, 2022 - thelancet.com
Thalassaemia is a diverse group of genetic disorders with a worldwide distribution affecting
globin chain synthesis. The pathogenesis of thalassaemia lies in the unbalanced globin …

β-Thalassemias

AT Taher, KM Musallam… - New England Journal of …, 2021 - Mass Medical Soc
β-Thalassemias Defective synthesis of the β-globin chain causes recessively inherited
disorders characterized by inadequate hemoglobin production and chronic anemia …

[HTML][HTML] Molecular genetics of β-thalassemia: A narrative review

TH Jaing, TY Chang, SH Chen, CW Lin, YC Wen… - Medicine, 2021 - journals.lww.com
Abstract β-thalassemia is a hereditary hematological disease caused by over 350 mutations
in the β-globin gene (HBB). Identifying the genetic variants affecting fetal hemoglobin (HbF) …

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 …

Epidemiology of clinically significant forms of alpha‐and beta‐thalassemia: A global map of evidence and gaps

KM Musallam, L Lombard, KD Kistler… - American journal of …, 2023 - Wiley Online Library
This systematic literature review assessed the global prevalence and birth prevalence of
clinically significant forms of alpha‐and beta‐thalassemia. Embase, MEDLINE, and the …

2021 update on clinical trials in β‐thalassemia

KM Musallam, R Bou‐Fakhredin… - American journal of …, 2021 - Wiley Online Library
The treatment landscape for patients with β‐thalassemia is witnessing a swift evolution, yet
several unmet needs continue to persist. Patients with transfusion‐dependent β …

Overall and complication‐free survival in a large cohort of patients with β‐thalassemia major followed over 50 years

GL Forni, B Gianesin, KM Musallam… - American Journal of …, 2023 - Wiley Online Library
We report data on survival and complications for a longitudinal cohort of 709 transfusion‐
dependent β‐thalassemia major patients (51.1% males) born between 1970 and 1997 and …

[HTML][HTML] Management of transfusion-dependent β-thalassemia (TDT): Expert insights and practical overview from the Middle East

A El-Beshlawy, H Dewedar, S Hindawi, S Alkindi… - Blood Reviews, 2024 - Elsevier
Abstract β-Thalassemia is one of the most common monogenetic diseases worldwide, with a
particularly high prevalence in the Middle East region. As such, we have developed long …

New insights into pathophysiology of β-thalassemia

M Sanchez-Villalobos, M Blanquer, JM Moraleda… - Frontiers in …, 2022 - frontiersin.org
β-thalassemia is a disease caused by genetic mutations including a nucleotide change,
small insertions or deletions in the β-globin gene, or in rare cases, gross deletions into the β …

[HTML][HTML] Thalassemia: A Review of the Challenges to the Families and Caregivers

R Yousuf, S Akter, SM Wasek, S Sinha, R Ahmad… - Cureus, 2022 - ncbi.nlm.nih.gov
Thalassemias are a group of congenital hemoglobin (Hb) disorders distinguished by
dwindling or total curtailment of production of one or more globin chains of hemoglobin …