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 …
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
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 …
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 …
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 …
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 …
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 …
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 …
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 …
hemoglobin molecule. Genetic mutation results in major changes in the hemoglobin …
[图书][B] Sickle cell anemia: From basic science to clinical practice
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 …
fascinating pathophysiology is still not fully understood. A single mutation in the beta-globin …
Sickle cell disease
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 …
which encodes haemoglobin subunit β. The incidence is estimated to be between 300,000 …