摘要:

Sideroblastic anemia is an extremely rare disorder in children. This report describes a 9-year 4-month-old girl with severe refractory anemia with ringed sideroblasts (RARS) that progressed to severe bone marrow aplasia. Ultra-structural studies revealed the presence of abundant intramitochondrial deposits of iron in erythroblasts similar to that observed in adults with this disorder. Although acid ferrocyanide staining confirmed the ferric valence of the iron deposits, they lacked morphologic and cytochemical characteristics associated with ferritin and hemosiderin. Bone marrow culture showed decreased or absent CFU-GEMM, CFU-GM, CFU-E, and BFU-E. Erythrocyte uroporphyrinogen I synthase, aminolevulinic acid dehydratase, uroporphyrinogen decarboxylase, urinary porphyrins, porphobilinogen, and aminolevulinic acid were normal. Free red cell protoporphyrin was increased. Therapy with corticosteroid and androgens was totally ineffective. The aplastic bone marrow in this child appeared to represent the end stage of RARS and differed from adults with RARS, who more frequently demonstrate a chronic course, often with the onset of leukemia as a terminal sequela. Although this case documents the occurrence of RARS in a child, additional reports of children with this disorder will be required to determine the prognosis and natural history of RARS in children.

ISSN:0192-8562    

出版商:OVID    

年代:1992

数据来源: OVID

摘要:

Standard electrophoretic methods for the diagnosis of hemoglobinopathies are confounded in individuals chronically transfused. We present the accurate diagnosis of sickle cell disease in two such transfused patients by the application of polymerase chain reaction technology to analyze patient's hemoglobin β-chain genes directly.

ISSN:0192-8562    

出版商:OVID    

年代:1992

数据来源: OVID

摘要:

Infusions of factor VIII at 50–100 U/kg were administered “on demand” for bleeding episodes, or once weekly, in eight patients (aged 3–20 years) with hemophilia A and historically high titer inhibitors to factor VIII. Inhibitors were eliminated and immunologic tolerance to factor VIII occurred in five of the eight patients within 5–31 months. Four patients had minimal anamnestic responses upon starting factor VIII infusions. One patient, who continued on weekly factor VIII after appearance of the inhibitor, had a continued rise in titer for 10 weeks, followed by a gradual decrease and elimination of the inhibitor at 24 months. Three patients had marked anamnestic rises in the inhibitor levels (204–2150 BU) at the start of the factor VIII infusions, followed by a slow fall and eventual suppression of the inhibitor titers to <15 BU. The administration of IgG, cyclophosphamide, and prednisone was only partially successful at enhancing inhibitor suppression in two of the highest responding patients. This less intensive factor VIII infusion program appeared as effective, better tolerated, and less costly than other more intensive protocols utilizing daily factor VIII for inducing immune tolerance in hemophilia patients with inhibitors.

ISSN:0192-8562    

出版商:OVID    

年代:1992

数据来源: OVID

ISSN:0192-8562    

出版商:OVID    

年代:1992

数据来源: OVID

ISSN:0192-8562    

出版商:OVID    

年代:1992

数据来源: OVID

ISSN:0192-8562    

出版商:OVID    

年代:1992

数据来源: OVID