1/66. A novel mutation of the erythroid-specific delta-aminolaevulinate synthase gene in a patient with X-linked sideroblastic anaemia.A novel missense mutation, A1754G, in exon 11 of the erythroid-specific delta-aminolaevulinate synthase gene (ALAS2) was identified in a Japanese male with sideroblastic anaemia. ALAS activity in bone marrow cells of the patient was reduced to 53.3% of the normal control. Consistent with this finding, activity of a bacterially expressed ALAS2 mutant protein harbouring this mutation was 19.5% compared with the normal control, but was increased up to 31.6% by the addition of pyridoxal 5'-phosphate (PLP) in vitro. RFLP analysis with Bsp HI restriction revealed that his mother was a carrier of the mutation. These findings suggest that A1754G mutation was inherited in this family in a manner consistent with X-linked inheritance, and is responsible for sideroblastic anaemia in the patient.- - - - - - - - - - ranking = 1keywords = anaemia (Clic here for more details about this article) |
2/66. thrombocytosis with sideroblastic erythropoiesis: a mixed myeloproliferative myelodysplastic syndrome.Some patients with haematological neoplasms have features which overlap between a myelodysplastic syndrome and a myeloproliferative disorder. Two such patients are reported, both having sideroblastic erythropoiesis and thrombocytosis and one sequentially developing features of atypical chronic myeloid leukaemia, idiopathic myelofibrosis and acute megakaryoblastic leukaemia. The prevalence of thrombocytosis among cases of refractory anaemia with ring sideroblasts may be as high as 15-20% and has implications for choice of therapy.- - - - - - - - - - ranking = 0.16666666666667keywords = anaemia (Clic here for more details about this article) |
3/66. Sideroblastic anaemia and leukaemia in multiple myeloma.Two patients with IgA myeloma and one patient with kappa light chain disease developed sideroblastic anaemia from two to four years after the initial diagnosis. All had previously received radiotherapy and chemotherapy (melphalan and prednisone). In two patients the myeloma was quiescent when the sideroblastic change occurred. Leukaemia occurred in two patients two and seven months respectively after the diagnosis of sideroblastic anaemia was made. In one of them, the myeloma became active again at the same time. The development of sideroblastic anaemia may be a pre-leukaemic event and may be recognised by the appearance of a dimorphic blood film.- - - - - - - - - - ranking = 1.1666666666667keywords = anaemia (Clic here for more details about this article) |
4/66. Relapsing polychondritis and myelodysplasia: a report of two cases and review of the current literature.Relapsing polychondritis (RP) is a rare multisystem disorder. We describe two case reports of patients with RP, one of whom developed myelodysplasia subtype refractory anaemia (RA) and the other, refractory anaemia with ringed sideroblasts (RARS). We also review the literature of association between RP and haematological disorders.- - - - - - - - - - ranking = 0.33333333333333keywords = anaemia (Clic here for more details about this article) |
5/66. Allogeneic peripheral stem cell transplantation in a case of hereditary sideroblastic anaemia.We report on a case of pyridoxine refractory hereditary sideroblastic anaemia (HSA) in a 19-year-old man who underwent peripheral blood stem cell transplantation (PBSCT) from his HLA-identical brother. By using short tandem repeat polymorphism, 100% donor cells were observed in peripheral blood on day 21; bone marrow showed mixed chimaerism from day 21 to day 221, when 100% cells of donor origin were observed. The patient developed extensive chronic graft-versus-host disease with favourable response to treatment. When the haemoglobin range was normal, a programme of phlebotomies reduced serum ferritin levels. Three years after transplantation, the patient has an ECOG rating of 0, with completely normal haemoglobin values (15 g/dl). To our knowledge, this is the first PBSCT reported in a case of hereditary sideroblastic anaemia.- - - - - - - - - - ranking = 1keywords = anaemia (Clic here for more details about this article) |
6/66. X-linked sideroblastic anaemia with ataxia: another mitochondrial disease?OBJECTIVES: The syndrome of X-linked sideroblastic anaemia with ataxia is rare, described only twice in the literature. The aim was to obtain clinical neurological and haematological data about this rare syndrome throughout adult life. methods: A family is described with two affected brothers and two affected maternal uncles. The family was evaluated clinically. Haematological investigations included full blood count, blood film, iron studies, free erythrocyte protoporphyrin (FEP) concentrations and a bone marrow examination where possible. RESULTS: Core neurological features included motor delay, ataxia evident from early childhood, and dysarthria. Neurological features were non-progressive until the fifth decade when slow progression became evident. Some family members showed mild spasticity. patients usually have a mild asymptomatic anaemia or a borderline decreased mean corpuscular volume. Blood film examination showed Pappenheimer bodies. bone marrow examination showed ring sideroblasts, indicating raised erythrocyte iron. Free erythrocyte protoporphyrin (FEP) concentrations were raised. CONCLUSIONS: Haematological features are subtle and can be easily overlooked, and individual patients may not display all the abnormal features. X-linked ataxias are rare and incorrect genetic advice may be given if the diagnostic haematological features of X-linked sideroblastic anaemia are overlooked. Males with early onset ataxia should have a haematological evaluation including a blood film, with a bone marrow examination if abnormal blood count indices and measurement of FEP concentrations raise suspicion. The condition has parallels with Pearson's syndrome and Friedreich's ataxia. All three conditions are associated with mitochondrial iron handling defects and ataxia. The human ATP binding cassette gene (hABC7) is a candidate gene and requires further investigation.- - - - - - - - - - ranking = 1.1666666666667keywords = anaemia (Clic here for more details about this article) |
7/66. Congenital sideroblastic anaemia successfully treated using allogeneic stem cell transplantation.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.- - - - - - - - - - ranking = 1keywords = anaemia (Clic here for more details about this article) |
8/66. A case of sideroblastic anaemia associated with marked elevation of erythrocytic arginase activity.Abnormal erythrocytic arginase activity about 30 times higher than normal controls, was found in a 63-year-old male with sideroblastic anaemia. We suggest that an abnormal concentration of arginase in the erythroblasts, in this case reduces the arginine concentration and results in decreased haemoglobin synthesis.- - - - - - - - - - ranking = 0.83333333333333keywords = anaemia (Clic here for more details about this article) |
9/66. Sideroblastic anaemia associated with iron overload treated by repeated phlebotomy.iron overload with prominent skin pigmentation and hepatic parenchymal siderosis is reported in a patient with refractory sideroblastic anaemia. Failure to reverse the sideroblastic changes or the anaemia with conventional therapy prompted us to use a graded phlebotomy programme. The rising haemoglobin level in spite of repeated venesections is support for this approach in selected patients with this diagnosis.- - - - - - - - - - ranking = 1keywords = anaemia (Clic here for more details about this article) |
10/66. Sideroblastic anaemia with reactive thrombocytosis versus myelodysplastic/myeloproliferative disease.The reported incidence of thrombocytosis among cases of refractory anaemia with ring sideroblasts (RARS) may be as high as 15%. We report four additional cases of this association, which appear to be hematologically heterogeneous. One patient clearly represents a case of RARS with reactive thrombocytosis. Two cases have features suggestive of the coincidental occurrence of essential thrombocythemia and RARS. The fourth case could be best classified as a subtype of myelodysplastic/myeloproliferative disease unclassifiable (MDS/MPD U). Only new biological or molecular markers will allow better differentiation between these disorders.- - - - - - - - - - ranking = 0.83333333333333keywords = anaemia (Clic here for more details about this article) |
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