11/430. A novel 105 basepair deletion causing beta(0)-thalassemia in members of a Thai family. We identified and characterized a novel beta(0)-thalassemia mutation due to partial deletion of the 5' end beta-globin gene including the mRNA cap site and a part of exon 1. The deletion was precisely 105 basepair (bp) in length extending from position -24 or -25 to 80 or 81 relative to the beta-globin gene mRNA cap site. This mutation was detected in three individuals from a family originating in the area of southern thailand. The propositus was a 39-year-old female and noted to be heterozygous for beta-thalassemia with hemoglobin (Hb) level of 10.1 g/dl, MCV 70 fl, MCH 23.1 pg, HbA2 6.3%, and HbF 2.4%. Her son was 9 years of age and was also heterozygous for the mutation, having Hb level of 10.8 g/dl, MCV 58 fl, MCH 19.0 pg, HbA2 5.6%, and HbF 4.3%. Her 6-year-old daughter was affected, having a genotype of this mutation and a G-C transition at IVS 1 nt 5. Although the deletion does not include the beta-globin gene promoter sequences, the individuals heterozygous for this mutation have an elevated HbA2 level slightly higher than observed in most carriers of beta-thalassemia caused by point mutations. ( info) |
12/430. The beta -thalassemia mutation [IVS-II-5 (G-->C] creates an alternative splicing site in the second intervening sequence. We report a beta-thalassemia mutation [IVS-II-5 (G-->C)] in a Chinese family. Recently we cloned this beta-globin gene and studied its transient expression in murine erythroleukemia (MEL) cells. Both the thalassemic and normal beta-globin genes were isolated by polymerase chain reaction and TA-vector cloning. When the cloned beta-thalassemic globin gene was introduced into MEL cells, two kinds of spliced cytoplasmic beta-globin RNAs were detected. The predominant RNA was normally spliced, while the less abundant RNA contained an insertion of the first 47 nucleotides of the second intervening sequence localized between exons 2 and 3. These results suggest that the mutation [IVS-II-5 (G-->C)] causes a beta -thalassemia. ( info) |
| CONTEXT: spinal cord compression due to extramedullary hematopoiesis is a well-described but rare syndrome encountered in several clinical hematologic disorders, including beta-thalassemia. CASE REPORT: We report the case of a patient with intermediate beta-thalassemia and crural paraparesis due to spinal cord compression by a paravertebral extramedullary mass. She was successfully treated with low-dose radiotherapy and transfusions. After splenectomy, she was regularly followed up for over four years without transfusion or recurrence of spinal cord compression. DISCUSSION: Extramedullary hematopoiesis should be investigated in patients with hematologic disorders and spinal cord symptoms. The rapid recognition and treatment with radiotherapy can dramatically alleviate symptoms. ( info) |
| Although home transfusion programmes are relatively common in the USA (Anon, 1990, Home Care in the 1990s. Council on Scientific Affairs. Journal of the american medical association, 263, 1241-1244), this type of treatment has only recently been considered in Britain and, where it is in operation, is generally supervised by trained nursing staff or via a hospice. North Middlesex Hospital now has 3 years experience of a home transfusion programme operating for beta-thalassaemia major patients, in which relatives are trained and responsible for supervision of the red-cell transfusions at home. For families who request this service, and who are willing and able to undertake it responsibly, the scheme offers the advantages of improved patient comfort, reduced absences from education or employment and reduced hospital bed usage. patients and their carers express improved satisfaction with the treatment delivered in this way. ( info) |
15/430. Infected ovarian cyst in a homozygous beta-thalassemic patient. An infected ovarian cyst in a thalassemic patient is rarely reported. We describe the case of a 22-year old woman with splenectomized homozygous beta-thalassemia who developed high fever and was diagnosed as having an infected ovarian cyst. The mechanisms which beta-thalassemia might predispose to infection and considered to be immunocompromized are discussed. She was given an intravenous antibiotic regimen and the infected ovarian cyst was removed. The difficulties in the diagnosis of an infected ovarian cyst is because of its rarity and the paucity of information on it in the literature. Therefore, the triad of ovarian cyst, immunocompromized host, and signs of infection with failure to identify any other source of infection should raise the suspicion of an infected ovarian cyst. ( info) |
16/430. Phenotypic variability of Filipino beta(o)-thalassemia/HbE patients in indonesia. Three Indonesian patients with identical genotypes, each compound heterozygotes for Filipino beta(o)-thalassemia/HbE, expressed different clinical severities. One patient has mild disease and is transfusion independent, while the other two are severely affected and transfusion dependent. The size of the Filipino beta(o)-globin gene deletion was confirmed to be 45 kb, resolving conflicting values given in the literature. Neither ameliorating genetic factors such as alpha-globin gene deletions or the XmnI restriction site polymorphism at position -158 upstream of the (G)gamma-globin gene, nor differences in beta-globin gene haplotype, explain the phenotypic variation. These observations have implications for the development of antenatal diagnosis in indonesia, as at present it is not possible to give an accurate prediction of severity of phenotype for this common genotype. ( info) |
17/430. Ultrastructural changes in peripheral blood neutrophils in a patient receiving ganciclovir for CMV pneumonitis following allogenic bone marrow transplantation. A 13-year-old splenectomized, multitransfused beta-thalassemia major, male patient received an allogenic BMT from his HLA-compatible brother after suffering grade III regimen-related pulmonary toxicity. He developed features of CMV pneumonitis with positive pp65 CMV antigenemia involving 2.5% peripheral blood neutrophils from day 46. The patient received intravenous immunoglobulin and ganciclovir 5 mg/kg intravenously twice daily. His neutrophil count was maintained above 1 x 10(9)/l by G-CSF 5 microg/kg subcutaneously as and when required. From day 7 onwards following twice daily ganciclovir his peripheral blood smear started showing isolated cytoplasmic inclusions, 1-3 per neutrophil, 3-5 mu in diameter, involving 2-3% of the neutrophils and occasional monocytes. Transmission election microscopy of peripheral blood neutrophils showed type I and type II intranuclear inclusions. These inclusions disappeared within 48 h of stopping ganciclovir. Inclusions were not seen in three patients who were given prophylactic ganciclovir 5 mg/kg once daily for 5 days every week following allogenic BMT after the same conditioning regimen. These patients were also negative for CMV antigenemia. Development of type I and type II intranuclear inclusions in blood neutrophils in patients receiving ganciclovir therapy has not been reported previously, and the striking light microscopic changes provide simple morphological evidence of the toxic effect of this drug on blood neutrophils. ( info) |
18/430. Cure of beta-thalassaemia major by umbilical cord blood transplantation--a case report of malaysia's first cord blood transplantation. A 25-month-old boy with beta-thalassaemia major was presented with an opportunity for umbilical cord blood transplantation when his unborn sibling was diagnosed in utero to be a beta-thalassaemia carrier and also human leucocyte antigen compatible. A barely adequate amount of cord blood was collected at the birth of his sibling and infused into the patient after appropriate chemo-conditioning. Engraftment occurred without major complications. The subject is now alive and well 9 months post-transplant, thus marking our first success in umbilical cord blood transplantation. ( info) |
| Two patients with beta thalassemia who had undergone splenectomy for hypersplenism were admitted to the hospital with high fever and lobar pneumonia. Neither patient had gastrointestinal symptoms. Campylobacter bacteremia was diagnosed in both patients. campylobacter jejuni was identified in the first patient and campylobacter fetus in the second. Both patients were treated with broad-spectrum antibiotics and recovered fully. ( info) |
20/430. 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. ( info) |