Article
The search for genetic modifiers of disease severity in the β-hemoglobinopathies.
Cold Spring Harbor perspectives in medicine - 1 Oct 2012
Lettre Guillaume
Abstract excerpt
Sickle cell disease (SCD) and β-thalassemia, two monogenic diseases caused by mutations in the β-globin gene, affect millions of individuals worldwide. These hemoglobin disorders are characterized by extreme clinical heterogeneity, complicating patient management and treatment. A better understanding of this patient-to-patient clinical variability would dramatically improve care and might also guide the...
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