Congenital bone marrow failure syndromes

Sieff, Colin A.; Nisbet-Brown, Eric; Nathan, David G.

doi:10.1111/j.1365-2141.2000.02263.x

Cited by 13 publications

(8 citation statements)

References 122 publications

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“…1 Congenital disorders account for approximately one third of cases of bone marrow failure in childhood and include many different genetic diseases, such as Fanconi anemia, dyskeratosis congenita (DC), 2 Diamond-Blackfan anemia (DBA) 3 and others. [4][5][6][7] As new genetic tests are now available to make the diagnosis of these disorders possible, their presence should be carefully considered both in children and in adults before any treatment is started.…”

Section: Introductionmentioning

confidence: 99%

Outcomes after related and unrelated umbilical cord blood transplantation for hereditary bone marrow failure syndromes other than Fanconi anemia

et al. 2010

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BackgroundAllogeneic stem cell transplantation is the only curative option for patients with hereditary bone marrow failure syndromes. Umbilical cord blood is an alternative source of stem cells for allogeneic transplantation. Design and MethodsThis multicenter, retrospective study is based on data reported to the Eurocord Registry about patients with hereditary bone marrow failure syndrome who underwent umbilical cord blood transplantation. ResultsSixty-four patients with hereditary bone marrow failure syndromes were transplanted from related (n=20) or unrelated donors (n=44). Diagnoses were Diamond-Blackfan anemia (21 patients), congenital amegakaryocytic thrombocytopenia (16 patients), dyskeratosis congenita (8 patients), Shwachman-Diamond syndrome (2 patients), severe congenital neutropenia (16 patients) and unclassified (1 patient). In the group of patients who received grafts from related donors, all patients but one received an HLA-matched sibling transplant. The median number of total nucleated cells infused was 5¥10 7 /kg. The cumulative incidence of neutrophil recovery at 60 days was 95%. Two patients had grade II-IV acute graft-versus-host disease, while the 2-year cumulative incidence of chronic graft-versus-host disease was 11%. The 3-year overall survival rate was 95%. In the group of patients who received grafts from unrelated donors, 86% had HLA-mismatched grafts and three received two umbilical cord blood units. The median number of total nucleated cells infused was 6.1¥10 7 /kg. The cumulative incidence of neutrophil recovery at day 60 in this group was 55%. The 100-day cumulative incidence of grade II-IV acute graft-versus-host disease was 24%, while the 2-year cumulative incidence of chronic graft-versus-host disease was 53%. The 3-year overall survival rate was 61%; better overall survival was associated with age less than 5 years (P=0.01) and 6.1¥10 7 /kg or more total nucleated cells infused (P=0.05). ConclusionsIn patients with hereditary bone marrow failure syndromes, related umbilical cord blood transplantation is associated with excellent outcomes while increasing cell dose and better HLA matching might provide better results in unrelated umbilical cord blood transplantation.Key words: cord blood transplantation, hereditary bone marrow failure syndromes, engraftment, HLA compatibility.Citation: Bizzetto R, Bonfim C, Rocha V, Socié G, Locatelli F, Chan K, Ramirez O, Stein J, Nabhan S, Miranda E, Passweg J, de Souza CA, Gluckman E, on

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Section: Introductionmentioning

confidence: 99%

Outcomes after related and unrelated umbilical cord blood transplantation for hereditary bone marrow failure syndromes other than Fanconi anemia

et al. 2010

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“…Diagnosis of IBMFS such as Fanconi's anemia and dyskeratosis congenita may be obvious clinically although not in all cases because of clinical and genetic heterogeneity. Fanconi anemia generally occurs in infancy but if urogenital and skeletal abnormalities are not present, the diagnosis may be made in adulthood [20]. Specific tests are available to confirm any clinical suspicion: FA may be diagnosed by the demonstration of diepoxybutane (DEB)-induced chromosomal breakage in peripheral blood lymphocytes.…”

Section: Discussionmentioning

confidence: 99%

Aplastic anaemia in childhood. Description of two cases and review of the literature

et al. 2009

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AbstractChildhood aplastic anaemia (AA) is an uncommon but potentially fatal haematological disorder. Patients with AA receive supportive care based on transfusions and timely treatment of opportunistic infections, along with specific therapies, which may be bone marrow transplantation and immunosuppressive therapy. Early diagnosis and supportive therapy are required to prevent fatal complications like overwhelming sepsis or life threatening haemorrhages. We report two cases of aplastic anaemia having a different aetiology. The diagnostic work-up and the therapeutic management for each case are described below.

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“…anemia; Diamond-Blackfan anemia; severe congenital neutropenia; INCLUIRIMAGEN thalassemia; hematopoietic transplantation Several genetic diseases, generally considered as congenital diseases, are characterized by bone marrow failure during early childhood (Table 1). Although they have recently been addressed in different reviews, 1,2 here we wish to focus on the results of hematopoietic transplantation in treating some of these diseases, with a special emphasis on congenital bone marrow failure and thalassemia.…”

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confidence: 99%

Hematopoietic transplantation for bone marrow failure syndromes and thalassemia

Sevilla

Fernández-Plaza

Díaz

et al. 2005

Bone Marrow Transplant

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Several genetic diseases, generally considered as congenital diseases, are characterized by bone marrow failure during early childhood. Hematopoietic stem cell transplantation is the only curative treatment for syndromes involving bone marrow failure and thalassemia. In this slate-of-the-art review, we wish to focus on the results of hematopoietic transplantation in treating some of these diseases, with a special emphasis on congenital bone marrow failure and thalassemia. The results of this procedure have improved over the previous years, mainly when performed by experienced teams. New conditioning regimes based on fludarabine and the use of HLAidentical donors have been related with better survivals. In the previous years, donors other than HLA-identical siblings have been increasingly used in patients not responding to conventional measures, but this approach needs to be evaluated in larger studies.

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Congenital bone marrow failure syndromes

Cited by 13 publications

References 122 publications

Outcomes after related and unrelated umbilical cord blood transplantation for hereditary bone marrow failure syndromes other than Fanconi anemia

Outcomes after related and unrelated umbilical cord blood transplantation for hereditary bone marrow failure syndromes other than Fanconi anemia

Aplastic anaemia in childhood. Description of two cases and review of the literature

Hematopoietic transplantation for bone marrow failure syndromes and thalassemia

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