1/41. Extraordinary intrathecal bone reaction in beta-thalassaemia intermedia.We report on a patient with thalassaemia which was refractory to blood transfusions. The clinical picture was striking, and highlights the potential severity of intrathecal bone reactions after chronic intractable haemolytic anaemia.- - - - - - - - - - ranking = 1keywords = anaemia (Clic here for more details about this article) |
2/41. Severe inclusion body beta-thalassaemia with haemolysis in a patient double heterozygous for beta(0)-thalassaemia and quadruplicated alpha-globin gene arrangement of the anti-4.2 type.We describe a new case of an association of alpha-globin gene quadruplication of the anti-4.2 type with beta(0)-thalassaemia. The patient, a young woman of mixed Brazilian-Portuguese origin, suffered from chronic haemolytic anaemia with splenomegaly. Bone marrow supravital staining with brilliant cresyl blue and electron microscopy studies showed large inclusion bodies in about 3% of erythroblasts. Upon immunofluorescent staining these inclusions reacted with a monoclonal antibody to alpha- but not to beta-globin. Analysis of alpha-globin cluster by Southern blotting showed the presence of pathologic fragments specific for the anti-4.2 alpha-globin gene quadruplication. Alpha/beta mRNA ratio was higher than in cases combining alpha-globin triplication and beta(0)-thalassaemia or in cases of beta(0)-thalassaemia heterozygous state alone (18, 14.7 and 10.1 respectively). Our data confirmed the hypothesis that the clinically detectable haemolysis in this beta(0)-thalassaemic patient was due to an unusually high amount of precipitated alpha-globin in erythroid precursors. This considerable excess of alpha-globin chains was due partly to the beta-globin deficit caused by the presence of the beta(0)-thalassaemic gene, but also to the presence of 6 active alpha-globin genes resulting from alpha-globin gene quadruplication in one chromosome.- - - - - - - - - - ranking = 1keywords = anaemia (Clic here for more details about this article) |
3/41. diagnosis of concurrent hemoglobin h disease and heterozygous beta-thalassemia.Definitive diagnosis of concurrent hemoglobin (Hb) H disease and heterozygous beta-thalassemia cannot be made from Hb analysis alone, but necessitates genotype analysis and family study. Interactions between alpha- and beta-thalassemia must be considered when investigating moderate to severe hypochromic microcytic anemia of uncertain cause in adult patients from areas with a high prevalence of globin gene mutations.- - - - - - - - - - ranking = 404.45017900284keywords = hypochromic (Clic here for more details about this article) |
4/41. Refractory hyperhaemolysis in a patient with beta-thalassaemia major.We report the case of a 1-year-old girl with newly diagnosed beta-thalassaemia major. Following an initial blood transfusion with phenotypically matched blood, she developed a haemolytic anaemia which progressed with subsequent transfusions. The Direct Antiglobulin test (DAT) was strongly positive with C3d and weakly with IgG. The only free antibodies detected were a weak anti-H and a weak cold auto-antibody, which did not exhibit a wide thermal range. The indirect Donath-Landsteiner and Ham's tests were negative. There was no sustained clinical response to steroids, immunoglobulin infusions or splenectomy. An HLA identical sibling donor was available for allogeneic bone marrow transplantation (BMT) and the haemolysis resolved during the immunosuppressive transplant conditioning. Such hyperhaemolysis without significant red cell alloantibodies has previously been reported in patients with sickle cell anaemia, but only rarely in patients with beta-thalassaemia major.- - - - - - - - - - ranking = 2keywords = anaemia (Clic here for more details about this article) |
5/41. Associated orthodontic, surgical and hematological management of Cooley s anemia. Report of a case.Cooley s anaemia or b-thalassaemia or mediterranean anaemia is a blood disease characterised by malformation of the skull and long bones, which confers a typical appearance on the patient. The complete development of facial abnormalities can be prevented by an intensive blood transfusion programme or by bone-marrow-transplantation. At the present time these therapeutic strategies would be able to help these patients grow and develop, live a prolonged life and avoid bad surgical RESULTS. The aim of this study was to evaluate the feasibility of orthodontic and maxillofacial surgical corrective treatment associated with an appropriate transfusion therapy in a b-thalassemic patient. The patient enrolled in the study was affected by major b-thalassemia and diagnosis was performed as an infant. She was referred to our centre at puberty for dento-maxillofacial disorders. Clinical, haematological and radiographic evaluation permitted a complete diagnosis. She received a combined haematological, orthodontic and maxillofacial surgical treatment. Controls for evaluating the statement of results obtained were performed at different times after the end of the therapy and have shown that the therapeutic objectives had been achieved and maintained. At the present time, complete diagnostic and therapeutic haematological strategies cannot be carried out on a large scale, especially in countries where health resources are limited. This objective reason, associated with possible low patient compliance, explains why we still encounter severe facial deformities resulting from erythroid hyperplasia. Our results suggest that this facial disfigurement requires surgical and orthodontic correction by consolidated surgical-orthodontic techniques performed according to the appropriate anaemia therapy. Although this is a preliminary study, initial encouraging results show no relapse three years after the end of the therapy.- - - - - - - - - - ranking = 3keywords = anaemia (Clic here for more details about this article) |
6/41. MRI findings of extramedullary haemopoiesis.Extramedullary haemopoiesis (EH) is a compensatory process associated with chronic haemolytic anaemia. It is rare, however, for such an abnormality to cause spinal cord compression. We present two patients with known beta-thalassaemia intermedia who developed spinal cord compression due to masses of extramedullary haematopoietic tissue in the epidural space of the thoracic spine. The EH masses were diagnosed by MRI as an isointense epidural lesion on both T1- and T2-weighted images, compressing severely the spinal cord. After administration of a paramagnetic agent, an intermediate enhancement of the masses was evident. All the vertebral bodies had low to intermediate signal intensity as a result of displacement of fatty marrow by haematopoietic marrow. Expansion of thoracic ribs with bilateral paravertebral masses were characteristic. A small dose of radiotherapy was given and marked improvement in neurological symptoms was evident. An MRI examination established shrinkage of the mass and decompression of spinal cord. The role of MRI in diagnosis of EH masses is essential and radiation therapy is a very effective treatment for this rare complication.- - - - - - - - - - ranking = 1keywords = anaemia (Clic here for more details about this article) |
7/41. multiple myeloma in sickle cell syndromes.multiple myeloma (MM) is rare among patients with sickle cell syndromes (SCS). We describe six Greek sickle cell patients aged 56 to 65 years: five haemoglobin Sbeta thalassaemia (HbSbeta (thal), one sickle cell anaemia (HbSS), who developed MM (three IgGkappa, one IgGlambda, one IgAkappa, and one IgGK-IgAK (biclonal). Our HbSbeta thal cases, represent the first reported association of this entity with MM. Generalized bleeding diathesis, stroke, grand mal seizures, bone marrow necrosis and other clinical manifestations due to hyperviscosity aggravated by sickle cell vasoocclusion were treated by plasmaphereses and exchange blood transfusions. The increase of mean survival in SCS patients due to the current medical facilities may have an impact on the incidence of MM among them, if a pathogenetic link between the two conditions exists. All our patients carried a diagnosis of cholelithiasis which may predispose to MM; two of them progressed from a monoclonal gammopathy of undetermined significance (MGUS) to MM. Further studies are needed in order to understand the relationship between SCS and MM.- - - - - - - - - - ranking = 1keywords = anaemia (Clic here for more details about this article) |
8/41. The beta-globin genotype E121Q/W15X (cd121GAA-->CAA/cd15TGG-->TGA) underlines Hb d/beta-(0) thalassaemia marked by domination of haemoglobin D.Among 13,525 haemoglobin analyses performed in our laboratory we detected 21 cases of haemoglobin D (Hb D) disease. Investigation of a family affected with this abnormal haemoglobin revealed two cases of Hb D/beta-(0) thalassaemia for the first time among Saudi arabs. The two patients were diagnosed as having chronic haemolytic anaemia of moderate severity on the basis of the haemoglobin level, haematocrit, mean corpuscular haemoglobin, mean corpuscular volume, reticulocyte count, red blood cell count microscopy, elevated serum conjugated and non-conjugated bilirubin, increased serum lactic dehydrogenase, and the occasional need for blood transfusions. Genetic analysis enabled the detection of compound heterozygosity for the missense E121Q (codon 121 GAA-->CAA) and stop W15X (codon 15 TGG-->TGA) mutations as causative of the clinical phenotype of Hb D-LosAngeles (Punjab)/beta-(0) thalassaemia. The disease manifested as domination of Hb D and moderate haemolytic anaemia. The co-inheritance of beta-(0) thalassaemia seems to be responsible for conferring the deleterious effect on the presentation of Hb D disease in these patients. The present result emphasizes the significance of molecular testing in resolving certain diagnostic ambiguities in haematology as in cases of heterozygous Hb D in association with beta-(0) thalassaemia which, by haemoglobin electrophoresis, may be misdiagnosed as Hb D homozygosity.- - - - - - - - - - ranking = 2keywords = anaemia (Clic here for more details about this article) |
9/41. Successful treatment of refractory autoimmune haemolytic anaemia in a post-unrelated bone marrow transplant paediatric patient with rituximab.Here, we report a case of paediatric beta-thalassaemia major patient who underwent unrelated T cell-non- depleted bone marrow transplantation and developed a complication of autoimmune haemolytic anaemia (AIHA) refractory to corticosteroid and intravenous immunoglobulin therapy. After this child received two doses (375 mg/m2/dose) of rituximab (anti-CD20 monoclonal antibody), his AIHA was resolved.- - - - - - - - - - ranking = 5keywords = anaemia (Clic here for more details about this article) |
10/41. Molecular characterization of thalassemia intermedia associated with HPFH-6/beta-thalassemia and HPFH-6/Hb E in Thai patients.We report the molecular and hematological characterizations of thalassemia caused by interactions of the hereditary persistence of fetal hemoglobin (HPFH)-6 with beta-thalassemia in 2 Thai patients and the HPFH-6 with Hb E in another Thai patient. Marked hypochromic microcytosis, characteristics of thalassemia intermedia, were obvious in the former 2 cases but the latter had much milder clinical phenotype with normal Hb and a slightly reduced mean corpuscular volume (MCV) value. Hb analysis revealed no Hb A but Hb A(2)F patterns in the compound HPFH-6/beta-thalassemia patients and the EF pattern in the HPFH-6/Hb E patient. The (G)gamma-globin chain predominated in all cases. Globin gene analyses demonstrated that all patients carried the 101-kb HPFH-6 deletion in trans to the beta-thalassemia genes with the IVS1#5 G-C mutation and the G insertion between codons 8/9 and the beta(E)-gene, respectively. Hematologic data of the patients were compared to those of the HPFH-6 heterozygotes found in their family members and different genotype-phenotype interactions of this HPFH determinant in these Thai patients are illustrated.- - - - - - - - - - ranking = 404.45017900284keywords = hypochromic (Clic here for more details about this article) |
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