Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002871 (anemia)
 52,094 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In four patients, all girls, aged 2, 3.5, 4 and 5 years, transient erythroblastopenia was diagnosed. The children were presented because of acute pallor. The haemoglobin levels were 2.8 to 5.0 mmol/l. After 3 weeks all patients had recovered or were recovering with increasing haemoglobin values. Three of the four patients needed one blood transfusion. In two patients there was evidence of a parvovirus B19 infection. Transient erythroblastopenia is mostly seen in patients aged 1-4 years. Most cases are postinfectious and there is evidence that human parvovirus B19 is responsible for many cases. In the very young child the differential diagnosis from Blackfan-Diamond anaemia may be very difficult.
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PMID:[Transient erythroblastopenia in 4 children]. 750 Oct 78

Mechanisms involved in the erythroid failure characterizing Diamond-Blackfan anaemia (DBA) remain unidentified. The general consensus is that the defect is intrinsic to the marrow erythroid progenitor, but the target progenitor cell has not been precisely identified, and in vitro studies have revealed considerable heterogeneity between patients. In order to understand better the meaning of such a biological heterogeneity, we examined the in vitro response of erythroid progenitors CFU-E (colony-forming unit-erythroid) and BFU-E (burst-forming unit-erythroid) to erythropoietin (Epo), interleukin-3 (IL-3) and stem cell factor (SCF) in a large series of 24 patients from 1 month to over 20 years of age. Results of colony assays revealed a striking correlation between the age of the patient and the extent of the abnormalities detected in vitro. Therefore, despite profound anaemia, 80% (7/10) of the patients studied within 1 year of diagnosis had normal numbers of both CFU-E and BFU-E which exhibited a normal response to cytokines. In contrast, 12/14 patients followed up for more than 3 years had decreased numbers of erythroid progenitors, in seven cases associated with decreased colony-forming unit granulocyte-macrophage (CFU-GM). The number of CFU-E and BFU-E was not normalized even by the addition of high concentrations of combined Epo, IL-3 and SCF.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Age-related alterations in erythroid and granulopoietic progenitors in Diamond-Blackfan anaemia. 752 24

W/Wv and S1/S1d mice with macrocytic anemias are a potential model for human inherited pure red cell anemia, called Diamond-Blackfan anemia (DBA). The W mutation involves the gene for c-kit, and the S1 mutation the gene for the kit ligand, called mast cell growth factor, steel factor, or stem cell factor. Since many children with DBA respond to treatment with corticosteroids, we administered steroids to these genetically anemic mice, to determine whether they might provide a model for the human disease. There was no improvement in the murine anemia, consistent with other evidence suggesting that mutations in kit or steel may not be involved in Diamond-Blackfan anemia.
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PMID:Lack of effect of corticosteroids in W/Wv and S1/S1d mice: these strains are not a model for steroid-responsive Diamond-Blackfan anemia. 768 5

Treatment of parvovirus infections among immunocompromised hosts using immunoglobulin has provided the clinician with a useful therapeutic tool but has also highlighted the problems concerning chronic disease states. The discovery of the human parvovirus B19 in 1975 and subsequent studies of its effects in humans have identified this virus as the causative agent of a broad spectrum of diseases. Recent improvements regarding the development of sensitive PCR techniques and methods for cultivation have provided new insight into its pathogenic role, its virology and immunology, and the varied clinical manifestations. The current state of knowledge concerning parvovirus enabled us to divide the long list of diseases caused by this virus into three main categories: (1) disease found among normal hosts (asymptomatic disease, erythema infectiosum, arthropathy, hydrops fetalis), (2) hematologic diseases (aplastic crisis, chronic anemia, idiopathic thrombocytopenic purpura, transient erythroblastopenia of childhood, Diamond-Blackfan anemia) and, finally, (3) a heterogeneous group of diseases, in which the etiologic role of parvovirus is less clear and sometimes putative (neurologic disease, rheumatologic disease, vasculitic and myocarditic syndromes). In particular, arthropathy, hydrops fetalis and the hematologic disorders may be of pediatric concern. Consequently, it is of paramount importance that in all of these cases the clinician includes parvovirus as a differential diagnosis.
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PMID:Parvovirus: the expanding spectrum of disease. 775 92

The Authors describe a case of Blackfan-Diamond anemia with ambiguous genitalia and other minor anomalies. They point out the elements of differential diagnosis with other precocious erythroblastopenic conditions and suppose a recessive inheritance of the disease because of family consanguinity in two generations.
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PMID:[Blackfan-Diamond disease with ambiguous genitalia]. 791 Sep 59

Blackfan-Diamond anemia, a chronic, pure red cell aplasia, is rare. Malignant fibrous histiocytoma is also uncommon; it can arise in pre-existing bone lesions. The authors describe a 23-year-old man with Blackfan-Diamond anemia complicated by hemochromatosis in whom malignant fibrous histiocytoma developed in the distal femur.
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PMID:Malignant fibrous histiocytoma in a patient with Blackfan-Diamond anemia. 792 25

The mechanism of the inhibitory effects of chelators (desferrioxamine, EDTA, rutin, phenanthroline and ADP) on the production of oxygen radicals in the Fenton reaction and on lipid peroxidation of rat brain homogenates has been studied. It was found that the inhibitory effects of the chelators correlated well with their abilities to oxidize ferrous ions in solution and brain homogenates. On these grounds, it was concluded that the oxidation of Fe2+ ions inside a ferrous ion-chelator complex is a major mechanism of inhibitory effects of these chelators on free radical processes. It is proposed that this mechanism is also realized during therapeutic treatment with chelators of patients with "free radical" pathologies such as Fanconi anemia, beta-thalassemia and Diamond-Blackfan anemia.
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PMID:Mechanism of inhibitory effects of chelating drugs on lipid peroxidation in rat brain homogenates. 813 55

Congenital hypoplastic anemia (CHA) or Blackfan-Diamond anemia (BDA) is a rare congenital abnormality of erythropoiesis characterized by normochromic, macrocytic anemia presenting in infancy or early childhood. Associated phenotypic abnormalities such as triphalangeal thumbs and cleft lip and/or palate are found in 70% of cases. Although most cases are sporadic, several reports suggest either autosomal dominant or autosomal recessive inheritance. We report on a 3 generation family with autosomal dominant inheritance of CHA.
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PMID:Congenital hypoplastic anemia: another example of autosomal dominant transmission. 816 Jul 59

We describe a 2-year-old girl with a rare combination of congenital red cell aplasia or Diamond-Blackfan anemia (DBA) and Treacher-Collins syndrome (TCS). The anemia is only marginally responsive to high-dose corticosteroid, and the child is transfusion dependent. There is no one in the family affected with either DBA or TCS. A hypothesis is advanced that the simultaneous occurrence of the dysmorphism and erythroid agenesis in this case may have been the consequences of an insult to the fetus at the critical stage of development of maxillomandibular structure and the stage of primitive erythroid cell migration from the yolk sac to the fetal liver and bone marrow.
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PMID:Diamond-Blackfan anemia associated with Treacher-Collins syndrome. 788 Mar 10

Four patients with Diamond-Blackfan syndrome (congenital hypoplastic anaemia) whose disease was resistant to corticosteroid treatment and who were red blood cell transfusion-dependent, were given marrow grafts from allogeneic human-leucocyte-antigen (HLA)-identical siblings. The patients were conditioned with regimens including cyclophosphamide and busulfan. Three of four patients had sustained and complete marrow engraftment. One patient showed early signs of haematopoietic recovery but died on day 35 of pulmonary toxicity. The three surviving patients are well with normal haematopoiesis and Karnofsky performance scores of 100%, 3.0, 7.4 and 10.6 years after transplantation. Congenital hypoplastic anaemia can be treated successfully by allogeneic marrow grafts.
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PMID:Long-term survival and cure after marrow transplantation for congenital hypoplastic anaemia (Diamond-Blackfan syndrome). 821 2


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