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)

A 31-yr-old female with congenital hypoplastic anemia (Diamond-Blackfan syndrome) whose long course terminated in acute myelogenous leukemia is described. In contrast to Fanconi anemia, malignant transformation rarely occurs in congenital hypoplastic anemia. This patient's diagnosis of congenital hypoplastic anemia is supported by her clinical course, absence of renal abnormalities, a negative family history for hematologic disorders, normal chromosome studies, failure of her skin fibroblasts to transform in culture with SV-40 virus, macrocytic erythrocyte indices, erythrocyte enzyme studies, and bone marrow findings. Only two other cases of malignancy have been reported in patients with congenital hypoplastic anemia. The development of malignancy in these patients suggests that malignant transformation may be a concern in the long-term progression of congenital hypoplastic anemia.
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PMID:Congenital hypoplastic anemia (Diamond-Blackfan syndrome) terminating in acute myelogenous leukemia. 27 51

A 24-year-old woman had congenital hypoplastic anemia (Blackfan-Diamond syndrome). Anemia was discovered at the age of 12 months and persisted thereafter. The patient had associated congenital abnormalities of urethral stricture, hypoplastic thumb, and absent radial pulse. Her erythroid hypoplasia responded favorably to treatment with prednisone.
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PMID:Prednisone-responsive congenital erythroid hypoplasia. 57 54

Peripheral blood lymphocytes from six patients with congenital hypoplastic anemia suppressed erythroid cell formation by normal human bone marrow cells in response to erythropoietin in vitro. The results suggest that the anemia in these children has an immunologic basis.
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PMID:Diamond-Blackfan syndrome: lymphocyte-mediated suppression of erythropoiesis. 98 86

Four children with congenital hypoplastic anemia (Diamond-Blackfan syndrome) and 30 control children with normal erythropoiesis were studied by a cell culture method in which human marrow, grown in a plasma clot, responds to added erythropoietin (EPO) with the appearance of discrete colonies of nucleated erythroid cells. The colonies arise from EPO-responsive stem cells and are not related to the number of morphologically identifiable marrow erythroids plated. Results of studies on control marrow indicated that without EPO there was little or no colony formation. Increasing EPO doses or nucleated marrow cells per culture resulted in a linear increase in colony numbers. The optimal EPO concentration of 2.5 U/ml yielded a mean of 158 +/- 79 colonies/1 x 10(5) nucleated cells on day 7 of incubation. Even in the absence of recognizable erythroids, marrows of all four patients with anemia grew erythroid colonies. Two patients on no therapy had decreased colony numbers. The other two, on prednisone, had normal numbers. Sera from patients did not inhibit colony formation from either autologous or control marrow. In contrast, serum from an adult with acquired pure red cell aplasia produced striking inhibition of colony growth. It appears that the red cell failure in this disorder is not due to an absence of erythroid stem cells, and a serum inhibitor to erythropoiesis as seen in the acquired disease is unlikely.
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PMID:Erythroid colony growth in congenital hypoplastic anemia. 124 3

Congenital hypoplastic (Diamond-Blackfan) anemia is a rare macrocytic anemia, generally presenting during infancy or childhood. The condition usually occurs sporadically or in a pattern consistent with autosomal recessive inheritance, although autosomal dominant transmission has been proposed in some kindreds. We report the largest known kindred of congenital hypoplastic anemia, with at least 7 affected individuals over 3 generations, and propose that studies of this kindred may be useful for identifying the mechanism by which their genetic abnormality results in congenital hypoplastic anemia. Erythropoietic investigations on relatives show no inhibitors of erythropoiesis in serum, T-lymphocytes, or macrophages. Their erythroid progenitor cells (CFU-E and BFU-E) were generally quantitatively normal, and were capable of rapid proliferation, as judged by cell-cycle shortening. However, their erythroid progenitors displayed a relative insensitivity to recombinant erythropoietin, and produced relatively few normoblasts per erythroid progenitor cell. We propose that these and subsequent studies may be helpful in selecting candidate genes responsible for the molecular defect in this kindred.
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PMID:Congenital hypoplastic (Diamond-Blackfan) anemia in seven members of one kindred. 230 64

Six congenital hypoplastic anemia (CHA) patients from five families who have been followed from 2 months to 28 years are presented. Mild hypoplastic anemia in a 13-year-old girl was associated with clinodactyly of the fifth finger on both hands, shortness in the proximal phalanges on all fingers, and syndactyly between the second and third toes and short fourth toe on the right foot. These abnormalities, except for clinodactyly, have not been reported previously in CHA. In one of the five families genetic transmission was thought to be autosomal-dominant since both the father and the son had the disease. Therapy with corticosteroids was initiated in all patients at the ages of 3.5 months to 13 years. Complete or near-complete recovery of anemia was obtained.
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PMID:Congenital hypoplastic anemia in six patients: unusual association of short proximal phalanges with mild anemia. 762 83

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

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

Blackfan-Diamond anemia is a congenital hypoplastic anemia with a birth prevalence of about 1 in 200,000, usually presenting in the first few months of life and commonly associated with cardiac, urogenital and digital anomalies. Congenital dyserythropoietic anemias are a group of rare congenital anemias characterized by ineffective erythropoiesis. We report on two cases of congenital fetal anemia, one with Blackfan-Diamond anemia and one with dyserythropoietic anemia, presenting with increased nuchal translucency at 12 weeks of gestation.
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PMID:Blackfan-Diamond anemia and dyserythropoietic anemia presenting with increased nuchal translucency at 12 weeks of gestation. 1215 74

We report two cases of very rare congenital hypoplastic anemia (Diamond-Blackfan anemia) in children. Both patients were boys admitted to our Clinic as severe anemia of unknown etiology, and had been previously treated in their Cantonal hospitals. Diagnose of congenital hypoplastic anemia was set up according: anamnesis, clinical picture with dominant features of anemia, cytomorphologic finding of peripheral blood picture, according blood marrow aspirate finding and according erithropoetin level level in blood.
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PMID:[Congenital hypoplastic anemia (Diamond-Blackfan anemia)]. 1601 1


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