A new autosomal recessive syndrome. Early onset of pancytopenia, distinct facial features, growth retardation and developmental delay.

The association of dysmorphic features and failure of one or more bone marrow cell lines is well known. Examples are Fanconi's anemia and Diamond-Blackfan anemia. This report describes 3 similarly affected children from consanguineous parents, all showing low birth weight, severe growth retardation, distinct facial features, microcephaly, mental retardation and onset of severe pancytopenia in infancy without increased chromosomal breakage. We conclude that these cases represent a new familial autosomal recessive bone marrow failure syndrome.

Deep vein thrombosis after hemolytic crisis in a glucose-6-phosphate dehydrogenase deficient boy with antithrombin-III deficiency.

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The experience of bone marrow transplantation at riyadh armed forces hospital.

This is a report about the program of bone marrow transplantation (BMT), which was established in 1989 at the Armed Forces Hospital in Riyadh, Saudi Arabia. We follow the strict international protocol of pre transplant assessment of the donor and the recipient, BMT conditioning by Cyclosphosphamide and Basulphan or body irradiation, BM harvest and processing, graft versus host disease prophylaxis by cyclosporin and methotrexate, and post-transplant care. Since the start of the BMT programme at the Armed Forces Hospitals in Riyadh in May 1989 and until the end of March 1996, fifty nine allogeneic and one autologous transplants have been performed. Chronic myelocytic and acute myeloid leukemia were the principal indications for BMT in our institute. The acturial five years survival of BMT in these two conditions was 67% and 47% respectively. Besides allografting, we finished the preparations for autologus BMT and peripheral blood stem cells transplantation, which may be used for treating patients with solid tumors and leukemias who are not suitable for allogenic transplantation due to older age or donor unavailability.

Continuous infusion of monoclonal antibody-purified factor VIII: rational approach to serious hemorrhage in patients with allo-/autoantibodies to factor VIII.

Hemorrhage in a patient with factor VIII inhibitor is associated with increased morbidity and mortality. Treatment with factor IX complex concentrates or recombinant factor VIIa (rVIIa) may not control bleeding and may induce thrombosis. In this study, continuous infusion of a monoclonal antibody-purified factor VIII [correction of factor VII] concentrate (Monoclate-P) was used successfully in two hemophilic patients with factor VIII alloantibodies and one nonhemophilic patient with a factor VIII autoantibody. In two patients, hemorrhage was life-threatening, and, in one, bleeding did not stop with repeated infusions of activated factor IX complex concentrates. The patients' ages ranged from 4 to 15 years, and the inhibitor levels from 6 to 300 Bethesda units/ml. Clinical hemostasis was excellent, and in vivo recovery of infused factor VIII was achieved. When an excess of monoclonal factor VIII was added to the inhibitor plasma in vitro, a stable level of residual factor VIII activity was noted after an initial rapid loss. This second-order reaction occurs in plasmas of patients with type I factor VIII inhibitors. In one patient, we showed that the saturation dose of the factor VIII inhibitor predicted in vivo recovery of factor VIII:C. These data emphasize the importance of characterizing the kinetic reactions of the factor VIII inhibitor. Furthermore, we confirm previous reports that continuous infusion of monoclonal factor VIII is a safe and effective treatment of patients with factor VIII inhibitors in whom hemorrhage is either life-threatening or refractory to standard treatment.