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 …

Changing patterns in the epidemiology of β‐thalassemia

A Kattamis, GL Forni, Y Aydinok… - European Journal of …, 2020 - Wiley Online Library
Abstract β‐thalassemia major is an inherited hemoglobinopathy that requires lifelong red
blood cell transfusions and iron chelation therapy to prevent complications due to iron …

Anemia in children: prevalence, causes, diagnostic work-up, and long-term consequences

S Allali, V Brousse, AS Sacri… - Expert review of …, 2017 - Taylor & Francis
Introduction: Anemia in children is a major public health problem throughout the world. It is
often multifactorial, iron deficiency being the most frequent etiology. Consequences are …

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 …

[HTML][HTML] Rapid targeted next-generation sequencing platform for molecular screening and clinical genotyping in subjects with hemoglobinopathies

X Shang, Z Peng, Y Ye, X Zhang, Y Chen, B Zhu… - …, 2017 - thelancet.com
Hemoglobinopathies are among the most common autosomal-recessive disorders
worldwide. A comprehensive next-generation sequencing (NGS) test would greatly facilitate …

Systematic literature review of the burden of disease and treatment for transfusion-dependent β-thalassemia

M Betts, PA Flight, LC Paramore, L Tian… - Clinical Therapeutics, 2020 - Elsevier
Purpose β-Thalassemia is an inherited blood disorder characterized by reduced or no
production of adult hemoglobin. Systematic identification of the burden of β-thalassemia with …

Challenges of alloimmunization in patients with haemoglobinopathies

ST Chou, RI Liem, AA Thompson - British journal of …, 2012 - Wiley Online Library
Red blood cell (RBC) transfusions can be life‐sustaining in chronic inherited anaemias,
such as thalassaemia, and the indications for blood transfusions in patients with sickle cell …

Thalassemias.

A Martin, AA Thompson - Pediatric Clinics of North America, 2013 - europepmc.org
The thalassemia syndromes are hemoglobin disorders that result from significantly reduced
or absent synthesis of either the α-or β-globin chains. The result is a chronic hemolytic …

A systematic review of quality of life in sickle cell disease and thalassemia after stem cell transplant or gene therapy

SM Badawy, U Beg, RI Liem, S Chaudhury… - Blood …, 2021 - ashpublications.org
Patients with sickle cell disease (SCD) and thalassemia experience several complications
across their lifespan that lead to impairment in different health-related quality of life (HRQOL) …

KLF1 mutations are relatively more common in a thalassemia endemic region and ameliorate the severity of β-thalassemia

D Liu, X Zhang, L Yu, R Cai, X Ma… - Blood, The Journal …, 2014 - ashpublications.org
Mutations in human Krüppel-like factor 1 (KLF1) have recently been reported to be
responsible for increased fetal hemoglobin (HbF) and hemoglobin A2 (HbA2). Because …