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By Terry Wikle Shapiro

Stem cellphone and Bone Marrow Transplantation

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5. Allogeneic BMT for FA a) FA is an autosomal recessive disorder characterized by bone marrow hypoplasia, microcephaly, genital hypoplasia, strabismus, skin hyperpigmentation, abnormalities of the skeleton, heart, and kidneys, and growth and mental retardation. b) Marrow cells of FA patients show high chromosomal breakage and failure of DNA repair. c) Marrow aplasia may not be evident until adulthood but is almost always fatal. Timing of BMT is appropriate when progressive pancytopenia develops, associated with transfusions or multiple infections.

Aplastic anemia is considered severe when anemia is associated with a corrected reticulocyte count of less than 1%, a neutrophil count of less than 500/mL, and a platelet count of less than 20,000/mL associated with a hypocellular marrow. 2. Several known etiologies exist for SAA: a) Acquired (1) Idiopathic (2) Secondary to drugs and chemical agents, radiation, and viral infections (3) Paroxysmal nocturnal hemoglobinuria b) Constitutional (1) Dyskeratosis congenita (2) Familial aplastic anemia 3.

Lymphoid as well as myeloid lineage) is not essential in all cases. Type and extent of engraftment required to correct the clinical manifestations of the disease depend on the nature of the underlying defect. f) About 30% of immunodeficiency patients with T-depleted histoincompatible transplants will develop Epstein-Barr-associated polyclonal Page 15 B-lymphoproliferative disease, which is usually donor in origin. 9 4. Autologous BMT for primary immunodeficiency diseases is not an option for this patient population.

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