RESUMEN
This case report describes a case of congenital sideroblastic anaemia, one of the prototype disorders of erythroid haem biosynthesis. In this instance it was not recognised until after the patient had undergone splenectomy and developed refractory thromboembolic disease.
Asunto(s)
Anemia Sideroblástica/congénito , Esplenectomía/efectos adversos , Tromboembolia/etiología , Anemia Sideroblástica/complicaciones , Anemia Sideroblástica/cirugía , Anticoagulantes/uso terapéutico , Diagnóstico Diferencial , Enoxaparina/uso terapéutico , Humanos , Masculino , Tromboembolia/diagnóstico , Tromboembolia/prevención & control , Adulto JovenRESUMEN
Therapy for patients with congenital sideroblastic anaemia has been limited to blood transfusions and chelation. Three children with congenital sideroblastic anaemia (SA) who were blood transfusion dependent underwent stem cell transplantation (SCT) from matched sibling donors. Conditioning consisted of cyclophosphamide 50 mg/kg/d for 4 d, busulphan 4 mg/kg/d for 4 d and anti-thymocyte globulin (ATG) 30 mg/kg for four doses pretransplant. Graft-versus-host disease (GVHD) prophylaxis was with cyclosporin A and methotrexate. All patients engrafted, and are alive and transfusion independent. SCT can be curative for patients with SA.
Asunto(s)
Anemia Sideroblástica/congénito , Anemia Sideroblástica/cirugía , Trasplante de Células Madre Hematopoyéticas , Suero Antilinfocítico/administración & dosificación , Busulfano/administración & dosificación , Niño , Preescolar , Ciclofosfamida/administración & dosificación , Femenino , Humanos , Inmunosupresores/administración & dosificación , Lactante , Masculino , Acondicionamiento Pretrasplante , Trasplante HomólogoRESUMEN
Allogeneic bone marrow transplantation (BMT) was carried out on a 34-month-old boy with congenital sideroblastic anemia. The patient had been red blood cell transfusion dependent since the age of 7 weeks. He did not respond to therapy with pyridoxine and developed secondary progressive hemosiderosis. The preparatory regimen consisted of busulfan (3.5 mg/kg for 4 days) and cyclophosphamide (50 mg/kg for 4 days). Full engraftment of donor bone marrow was achieved and effective hemopoiesis is still maintained 3 years after BMT.