The primary cause of aplastic anemia remains unknown in many patients. The aim of this study was to clarify the genetic cause of familial aplastic anemia. Genomic DNA of an affected individual from a multiplex consanguineous family was hybridized to a Nimblegen exome library before being sequenced on a GAIIx genome analyzer. Once the disease causing homozygous mutation had been confirmed in the...

A proportion of patients with aplastic anemia who are treated with immunosuppressive therapy develop clonal hematologic disorders, including post-aplastic anemia myelodysplastic syndrome. Many will proceed to allogeneic hematopoietic stem cell transplantation. We identified 123 patients with post-aplastic anemia myelodysplastic syndrome who from 1991 through 2011 underwent allogeneic hematopoie...

Patients with reduced ability to metabolize environmental carcinogens or toxins may be at risk of developing aplastic anemia. Glutathione S-transferase (GST) has been implicated in detoxifying mutagenic electrophilic compounds. This study asked whether the homozygous gene deletions of GSTM1 and GSTT1 affect the likelihood of developing aplastic anemia. The incidence of GSTM1 and GSTT1 gene dele...

Aplastic anemia is an uncommon complication of thymoma and is extremely infrequent after the surgical removal of a thymic tumor. Aplastic anemia is a result of marrow failure and is characterized by peripheral pancytopenia and severely depressed marrow cellularity; it may be an autoimmune manifestation of thymoma. As thymoma-associated hematological dyscrasias, which include pure red cell aplas...

The International Bone Marrow Transplant Registry reported experience from 179 transplant teams worldwide on patients treated with bone marrow transplantation for severe aplastic anemia. The cohort consisted of 470 patients (283 male, 187 female), mean age 20 years, who received an HLA-identical sibling bone marrow transplant for aplastic anemia between 1988 and 1992. The etiology of aplastic a...

Aplastic anaemia is a rare disease which is more prevalent in the Far East. In Malaysia, it appears to be unusually common in the state of Sabah. A retrospective analysis of all cases of aplastic anaemia diagnosed between January 1993 and March 1996 was undertaken. The criteria of the International Aplastic Anaemia and Agranulocytosis Study (IAAAS) was used. In this 39 month period, 31 cases we...

OBJECTIVE To complete the data on the demographic features of patients diagnosed to have aplastic anemia at a single institution over a 7.5 years period. METHODS Demographic information was retrieved from the patients medical records retrospectively as well as prospectively of those patients who presented with features of aplastic anaemia. Their diagnosis was confirmed by performing a complet...

Aplastic anemia therapy remains difficult, due to lack of effective treatment regimens. In recent years, Huangqi injection for the adjunctive therapy of aplastic anemia has been reported in many clinical trials. Considering that Huangqi injection may be a novel approach to aplastic anemia treatment, we conducted a meta-analysis of clinical controlled trials to assess the clinical value of Huang...

Aplastic anemia is a bone marrow failure syndrome characterized by peripheral cytopenias and hypocellular bone marrow. Although aplastic anemia is idiopathic in most cases, rheumatic diseases such as systemic lupus erythematosus are recognized as causes of aplastic anemia, with their possible etiological mechanisms being T and B lymphocyte dysfunction and pro-inflammatory cytokines and autoanti...