Hematology/oncology clinics of North America
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Hematol. Oncol. Clin. North Am. · Dec 2010
ReviewAllogeneic cellular gene therapy for hemoglobinopathies.
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% of patients with thalassemia and 72% to 96% with SCD, depending on disease status at the time of transplantation. ⋯ Unrelated donor HSCT is now extensively used to treat thalassemia, with results similar to those obtained following transplantation using HLA-matched sibling donors. Patients who lack a matched related or unrelated donor can now benefit from successful transplantation using haploidentical donors.
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Hematol. Oncol. Clin. North Am. · Dec 2010
ReviewNoninvasive approaches to prenatal diagnosis of hemoglobinopathies using fetal DNA in maternal plasma.
Fetal DNA is present in the plasma of pregnant women and can be used for noninvasive prenatal diagnosis. Early work had focused on the detection of paternally inherited fetal mutations in maternal plasma. Recent advances in single-molecule counting approaches have allowed the mutation dosage of the fetus to be analyzed in maternal plasma. These developments have been demonstrated as feasible for noninvasive prenatal diagnosis of several hemoglobinopathies, including β-thalassemia and hemoglobin E disease.
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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 an exciting alternative approach to a potential cure. ⋯ He has not required blood transfusions for almost 2 years. Most of the patient's gene correction and new human β-globin gene expression is caused by the expansion of a single clone in which the corrective transgene is inserted into an Hmga2 gene.