[HTML][HTML] Molecular basis of α-thalassemia

S Farashi, CL Harteveld - Blood Cells, Molecules, and Diseases, 2018 - Elsevier
Abstract α-Thalassemia is an inherited, autosomal recessive, disorder characterized by a
microcytic hypochromic anemia. It is one of the most common monogenic gene disorders in …

Molecular basis and genetic modifiers of thalassemia

S Mettananda, DR Higgs - Hematology/Oncology Clinics, 2018 - hemonc.theclinics.com
Thalassemia is one of the most common monogenic disorders in the world. 1 It is estimated
that nearly 70,000 children with various forms of thalassemia are born each year. 2 …

[HTML][HTML] Alpha-thalassemia

R Galanello, A Cao - Genetics in medicine, 2011 - Elsevier
Alpha-thalassemia is one of the most common hemoglobin genetic abnormalities and is
caused by the reduced or absent production of the alpha globin chains. Alpha-thalassemia …

α-Globin as a molecular target in the treatment of β-thalassemia

S Mettananda, RJ Gibbons… - Blood, The Journal of the …, 2015 - ashpublications.org
The thalassemias, together with sickle cell anemia and its variants, are the world's most
common form of inherited anemia, and in economically undeveloped countries, they still …

The molecular basis of α-thalassemia

DR Higgs - Cold Spring Harbor perspectives in …, 2013 - perspectivesinmedicine.cshlp.org
The globin gene disorders including the thalassemias are among the most common human
genetic diseases with more than 300,000 severely affected individuals born throughout the …

Editing an α-globin enhancer in primary human hematopoietic stem cells as a treatment for β-thalassemia

S Mettananda, CA Fisher, D Hay, M Badat… - Nature …, 2017 - nature.com
Abstract β-Thalassemia is one of the most common inherited anemias, with no effective cure
for most patients. The pathophysiology reflects an imbalance between α-and β-globin chains …

[PDF][PDF] Molecular basis and genetic modifiers of thalassemia

N Tesio, DE Bauer - Hematology/oncology clinics of North America, 2023 - Elsevier
Thalassemia syndromes are among the commonest monogenic disorders and represent a
substantial health burden worldwide. Here the authors have described globin genes …

Understanding α‐globin gene regulation and implications for the treatment of β‐thalassemia

S Mettananda, RJ Gibbons… - Annals of the New York …, 2016 - Wiley Online Library
Over the past three decades, a vast amount of new information has been uncovered
describing how the globin genes are regulated. This knowledge has provided significant …

Genetic and epigenetic therapies for β-thalassaemia by altering the expression of α-globin gene

S Mettananda - Frontiers in Genome Editing, 2021 - frontiersin.org
β-Thalassaemia is caused by over 300 mutations in and around the β-globin gene that lead
to impaired synthesis of β-globin. The expression of α-globin continues normally, resulting in …

Uncovering enhancer functions using the α-globin locus

D Vernimmen - PLoS genetics, 2014 - journals.plos.org
Over the last three decades, studies of the α-and β-globin genes clusters have led to
elucidation of the general principles of mammalian gene regulation, such as RNA stability …