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 …

Quantification of liver iron overload with MRI: review and guidelines from the ESGAR and SAR

SB Reeder, T Yokoo, M França, D Hernando… - Radiology, 2023 - pubs.rsna.org
Accumulation of excess iron in the body, or systemic iron overload, results from a variety of
causes. The concentration of iron in the liver is linearly related to the total body iron stores …

Thalassaemia

AT Taher, DJ Weatherall, MD Cappellini - The Lancet, 2018 - thelancet.com
Inherited haemoglobin disorders, including thalassaemia and sickle-cell disease, are the
most common monogenic diseases worldwide. Several clinical forms of α-thalassaemia and …

American Society of Hematology 2020 guidelines for sickle cell disease: transfusion support

ST Chou, M Alsawas, RM Fasano, JJ Field… - Blood …, 2020 - ashpublications.org
In July 2022, these guidelines were reviewed by an expert work group convened by ASH.
Review included limited searches for new evidence and discussion of the search results …

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 …

ACG clinical guideline: hereditary hemochromatosis

KV Kowdley, KE Brown, J Ahn… - Official journal of the …, 2019 - journals.lww.com
Hereditary hemochromatosis (HH) is one of the most common genetic disorders among
persons of northern European descent. There have been recent advances in the diagnosis …

Iron overload in thalassemia: different organs at different rates

AT Taher, AN Saliba - Hematology 2014, the American Society …, 2017 - ashpublications.org
Thalassemic disorders lie on a phenotypic spectrum of clinical severity that depends on the
severity of the globin gene mutation and coinheritance of other genetic determinants. Iron …

2021 Thalassaemia International Federation guidelines for the management of transfusion-dependent thalassemia

D Farmakis, J Porter, A Taher, MD Cappellini… - …, 2022 - journals.lww.com
Beta-thalassemia and particularly its transfusion-dependent form (TDT) is a demanding
clinical condition, requiring life-long care and follow-up, ideally in specialized centers and by …

Beta-thalassemia

R Galanello, R Origa - Orphanet journal of rare diseases, 2010 - Springer
Beta-thalassemias are a group of hereditary blood disorders characterized by anomalies in
the synthesis of the beta chains of hemoglobin resulting in variable phenotypes ranging from …

[PDF][PDF] Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases

BR Bacon, PC Adams, KV Kowdley, LW Powell… - …, 2011 - Wiley Online Library
To more fully characterize the available evidence supporting the recommendations, the
AASLD Practice Guidelines Committee has adopted the classification used by the Grading …