Clinical features of β-thalassemia and sickle cell disease

PT McGann, AC Nero, RE Ware - Gene and Cell Therapies for Beta …, 2017 - Springer
Sickle cell disease (SCD) and β-thalassemia are among the most common inherited
diseases, affecting millions of persons globally. It is estimated that 5–7% of the world's …

Current standards of care and long term outcomes for thalassemia and sickle cell disease

S Chonat, CT Quinn - Gene and cell therapies for beta-globinopathies, 2017 - Springer
Thalassemia and sickle cell disease (SCD) are disorders of hemoglobin that affect millions
of people worldwide. The carrier states for these diseases arose as common, balanced …

Sickle cell disease

LH Pecker, S Lanzkron - Annals of internal medicine, 2021 - acpjournals.org
Sickle cell disease is an umbrella term for a group of hemoglobinopathies characterized by
the presence of 2 β-globin gene mutations or deletions, at least 1 of which is the point …

Hematopoietic cell transplantation for thalassemia and sickle cell disease: past, present and future

M Bhatia, MC Walters - Bone marrow transplantation, 2008 - nature.com
Abstract β-Thalassemia major and sickle cell disease (SCD) are among the most common
hereditary disorders worldwide. The supportive treatment of β-thalassemia major requires …

Pathophysiology and therapy for haemoglobinopathies; Part I: sickle cell disease

C Madigan, P Malik - Expert reviews in molecular medicine, 2006 - cambridge.org
In sickle cell disease, a single base pair substitution in the gene encoding the β-globin chain
of the haemoglobin molecule gives rise to a surprisingly broad spectrum of …

Pathophysiology and therapy for haemoglobinopathies; Part II: thalassaemias

F Urbinati, C Madigan, P Malik - Expert reviews in molecular …, 2006 - cambridge.org
Thalassaemias result from mutations of the globin genes that cause reduced or absent
haemoglobin production and thus interfere with the critical function of oxygen delivery. They …

[PDF][PDF] Sickle cell disease: a short guide to management

F Galactéros, M de Montalembert - ESH Handbook on Disorders …, 2009 - researchgate.net
Sickle cell diseases are defined as genetic conditions in which at least one β globin gene
allele carries the βS (6V) mutation, associated with characteristic vascular occlusion …

Hematologic Conditions: Common Hemoglobinopathies.

B Keber, L Lam, J Mumford, B Flanagan - FP essentials, 2019 - europepmc.org
Hemoglobinopathies are genetic disorders that lead to abnormal structure of the
hemoglobin molecule. Genetic mutation results in major changes in the hemoglobin …

[图书][B] Sickle cell anemia: From basic science to clinical practice

FF Costa, N Conran - 2016 - books.google.com
Although sickle cell anemia was the first molecular disease to be identified, its complex and
fascinating pathophysiology is still not fully understood. A single mutation in the beta-globin …

Sickle cell disease

GJ Kato, FB Piel, CD Reid, MH Gaston… - Nature reviews Disease …, 2018 - nature.com
Sickle cell disease (SCD) is a group of inherited disorders caused by mutations in HBB,
which encodes haemoglobin subunit β. The incidence is estimated to be between 300,000 …