Hemoglobin E thalassemia accounts for about one-half of all cases of severe beta thalassemia. There is marked variability in its clinical severity ranging from an asymptomatic to a transfusion-dependent phenotype….
Down-regulation of α-globin synthesis causes α-thalassemia with underproduction of fetal (HbF, α 2 γ 2 ) and adult (HbA, α 2 β 2 ) hemoglobin. This article focuses on the…
The inherited disorders of hemoglobin, including the thalassemias, are by far the commonest monogenic diseases. Although several factors are responsible for their very high frequency, the major mechanism seems to…
The thalassemias are attributable to the defective production of the α- and β-globin polypeptides of hemoglobin. Significant discoveries have illuminated the pathophysiology and enhanced the prevention and treatment of the…
Hematopoietic cell transplantation is curative therapy for thalassemia major. Although the clinical application of hematopoietic cell transplantation has relied on marrow collected from related and unrelated donors as the primary…
Animal models of cancer have been instrumental in understanding the progression and therapy of hereditary cancer syndromes. The ability to alter the genome of an individual mouse cell in both…
Although inherited predisposition to colorectal cancer (CRC) has been suspected for more than 100 years, definitive proof of Mendelian syndromes had to await maturation of molecular genetic technologies. Since the…
Transfusional iron loading inevitably results in hepatic iron accumulation, with variable extrahepatic distribution that is typically less pronounced in sickle cell disease than in thalassemia disorders. Iron chelation therapy has…
Hematopoietic stem cell transplantation (HSCT) offers potentially curative therapy for patients with thalassemia major and sickle cell disease (SCD). Current myeloablative treatment protocols allow the cure of 78% to 90%…
Allogeneic stem cell transplantation currently is the only curative option for severe β-thalassemia and sickle cell disease. Human globin gene therapy with autotransplantation of transduced human hematopoietic stem cells is…
