One year follow-up of children and adolescents with chronic immune thrombocytopenic purpura (ITP) treated with rituximab.

Background: We previously showed in a prospective study that rituximab appears to be effective in some children and adolescents with severe chronic immune thrombocytopenia. Eleven of 36 patients achieved and maintained platelet counts over 50,000/mm(3) within the first 12 weeks. These patients were followed for the next year.

Prospective phase 1/2 study of rituximab in childhood and adolescent chronic immune thrombocytopenic purpura.

We assessed safety and efficacy of rituximab in a prospective study of 36 patients, age 2.6 to 18.3 years, with severe chronic immune thrombocytopenic purpura (ITP).

Four new cases of stomatin-deficient hereditary stomatocytosis syndrome: association of the stomatin-deficient cryohydrocytosis variant with neurological dysfunction.

This report concerns congenitally Na(+)-K(+) leaky red cells of the 'hereditary stomatocytosis' class. Three new isolated cases and one new pedigree are described, and one previously reported case is expanded. In all cases, Western blotting of red cell membranes revealed a deficiency in the 32 kDa membrane protein, stomatin.

A practical approach to the evaluation of the anemic child.

Anemia is a sign of disease and not a final diagnosis. The clinician's goal is to define the underlying cause. The anemia may be due to decreased production or Increased destruction or loss of red blood cells.

Prospects for research in hematologic disorders: sickle cell disease and thalassemia.

Sickle cell anemia and thalassemia constitute the most common genetic diseases in the world. Affected patients carry a heavy burden of morbidity and early mortality. With improved understanding of the pathophysiology and molecular basis of these diseases, treatment is evolving from management of symptoms to more effective strategies that aim to modify diseased red blood cells or replace them with normal cells.

Bone marrow transplantation for beta-thalassemia: the University of California San Francisco experience.

We report the results of allogeneic HLA-matched family donor stem cell transplantation in 17 North American children with beta-thalassemia major or hemoglobin E/beta-thalassemia who received transplants at the University of California San Francisco. Pretransplantation conditioning was with busulfan, cyclophosphamide, and antithymocyte globulin and graft-versus-host prophylaxis used cyclosporine, usually with added methotrexate. Twelve children are alive, well, and free of the clinical manifestations of thalassemia.

Impact of bone marrow transplantation for symptomatic sickle cell disease: an interim report. Multicenter investigation of bone marrow transplantation for sickle cell disease.

Fifty children who had symptomatic sickle cell disease received matched sibling marrow allografts between September 1991 and March 1999, with Kaplan-Meier probabilities of survival and event-free survival of 94% and 84%, respectively. Twenty-six patients (16 male, 10 female) had at least 2 years of follow-up after transplantation and were evaluated for late effects of transplantation and for its impact on sickle cell-related central nervous system (CNS) and pulmonary disease. Patients ranged between 3.

Bone marrow transplantation for hemoglobinopathies.

In patients with hemoglobinopathy who are treated by allogeneic matched sibling bone marrow transplantation before the onset of disease-associated organ damage, long term, disease-free survival currently stands at approximately 90%, and transplant-associated mortality is 5% or less. Less toxic nonmyeloablative conditioning regimens that have the potential to reduce procedure-related mortality to even lower levels are under active investigation. Expansion of the donor pool by use of unrelated matched donors awaits improvement in HLA-typing methodology.

Autoimmune hemolytic anemia in patients with SCID after T cell-depleted BM and PBSC transplantation.

We report a high incidence (19.5%) of autoimmune hemolytic anemia (AIHA) in 41 patients with SCID who underwent a T cell-depleted haploidentical transplant. Other than infections, AIHA was the most common post-transplant complication in this patient cohort.

Stomatocytosis is absent in "stomatin"-deficient murine red blood cells.

To examine the relationship between erythrocyte membrane protein 7. 2b deficiency and the hemolytic anemia of human hereditary stomatocytosis, we created 7.2b knock-out mice by standard gene targeting approaches.

Elevated resting energy expenditure in adolescents with sickle cell anemia.

Objective: To assess the reliability of standard prediction equations in estimating resting energy expenditure (REE) values in adolescents with sickle cell anemia.

Subjects/design: Body composition and metabolic measurements were performed in 8 adolescents, aged 11 to 18 years, with homozygous sickle cell anemia. REE was measured by indirect calorimetry under standard conditions, and measurements were compared with 4 prediction formulas (Harris-Benedict, Schofield, Mayo Clinic, and Food and Agriculture Organization/World Health Organization/United Nations University).

Collaborative multicenter investigation of marrow transplantation for sickle cell disease: current results and future directions.

We present updated results of a multicenter collaborative investigation of bone marrow transplantation for sickle cell disease. Between September 1991 and April 1997, thirty-four children less than 16 years of age with severe sickle cell disease received marrow allografts from HLA-identical siblings. Indications for transplantation included a history of stroke (n = 17), recurrent acute chest syndrome or sickle pulmonary disease (n = 10), and recurrent vaso-occlusive crises (n = 7).

Bone marrow transplantation for sickle cell disease.

Background: We investigated the risks and benefits of allogeneic bone marrow transplantation in children with complications of sickle cell disease.

Methods: Twenty-two children less than 16 years of age who had symptomatic sickle cell disease received marrow allografts from HLA-identical siblings between September 1991 and April 1995. The indications for transplantation included a history of stroke (n = 12), recurrent acute chest syndrome (n = 5), and recurrent painful crises (n = 5).

Genomic organization and 5'-flanking DNA sequence of the murine stomatin gene (Epb72).

Stomatin is a poorly understood integral membrane protein that is absent from the erythrocyte membranes of many patients with hereditary stomatocytosis. This report describes the cloning of the murine stomatin chromosomal gene, determination of its genomic structure, and characterization of the 5'-flanking genomic DNA sequences. The stomatin gene is encoded by seven exons spread over approximately 25 kb of genomic DNA.

Barriers to bone marrow transplantation for sickle cell anemia.

While allogeneic marrow transplantation is curative therapy for patients with sickle cell anemia, only a small fraction of patients in the United States receive this treatment. We surveyed participants in our multicenter study of marrow transplantation for sickle cell anemia to determine reasons for not proceeding to transplantation. Among the 4848 patients less than 16 years of age with sickle cell anemia that were followed in 22 collaborating centers, 315 (6.

Thrombo-embolic disease after splenectomy for hereditary stomatocytosis.

Nine cases of hereditary stomatocytosis (HSt) are presented which show documented thrombotic complications after splenectomy. In three cases, patients became severely ill with pulmonary hypertension and a fourth developed portal hypertension. One unsplenectomized affected adult relative had suspected but unconfirmed thrombotic pathology; the six other affected unsplenectomized adults did not.

Recombinant human erythropoietin stimulates erythropoiesis and reduces erythrocyte transfusions in very low birth weight preterm infants.

Design And Methods: We hypothesized that treatment with recombinant human erythropoietin (r-HuEPO) would stimulate erythropoiesis and would thereby reduce the need for erythrocyte transfusions in preterm infants. We treated 157 preterm infants born at 26.9 +/- 1.

Nontraumatic fat embolism syndrome in sickle cell anemia.

A 14-year-old girl with sickle cell disease and nephrotic syndrome developed bone pain, followed by pulmonary edema, seizures, coma, and bilateral flaccid paralysis. Fat embolism syndrome was diagnosed by cranial magnetic resonance imaging and an exchange transfusion was performed. Within 3 months, all symptoms had resolved.

Chronic pulmonary disorders in sickle cell disease: findings at thin-section CT.

Purpose: To characterize the non-acute abnormalities seen at computed tomography (CT) in patients with sickle cell (SC) disease and a prior history of acute chest syndrome (ACS)-pneumonia.

Materials And Methods: Twenty-nine patients with SC disease who had experienced one to more than 10 (median, six) previous episodes of ACS-pneumonia were prospectively studied with thin-section CT of the thorax. Scans were graded for interstitial disease and assigned a disease index ranging from 0 to 3.

Prenatal diagnosis of unusual hemoglobinopathies.

While analyzing 280 hemoglobinopathy kindreds with prescribed molecular tests, 3 unusual mutations were observed that required additional characterization. In the first case, the hypervariable region flanking the alpha-globin genes generated an intermediate length 8.2 kb psi zeta-globin gene fragment on a Southeast Asian chromosome with two deleted alpha-globin genes.

Availability of related donors for bone marrow transplantation in sickle cell anemia.

Purpose: To determine who might qualify for allogeneic bone marrow transplantation (BMT), we reviewed the medical records of all 143 patients with sickle cell anemia under the age of 16 years who were registered at our center.

Patients And Methods: A total of 135 records were complete and were used to estimate donor availability and disease severity. The mean number of siblings per patient was two, but this number decreased to 0.

Bone marrow transplantation for sickle cell disease. The United States experience.

Purpose: As of June 1992, five patients with sickle cell disease had been treated by matched sibling bone marrow transplantation in the United States.

Patients And Methods: Three patients underwent transplantations for complications related to sickle cell disease, two with previous cerebrovascular accidents (CVAs) and one who had had multiple severe vasoocclusive crises. Two patients had other indications for allogeneic bone marrow transplantation: one had acute myeloid leukemia and the other had Morquio's disease.