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 new G6PD variant, designated Gd (+) Laguna, was found in a 9-year-old Brazilian boy of Portuguese ancestry suffering from an iron-refractory anemia. The red cell enzyme activity of the subject was 64%. The mutant enzyme showed slower electrophoretic mobility, increased affinity for glucose-6-phosphate, decreased affinity for NADP+, elevated utilization of substrate analogues, decreased inhibition of NADPH, normal heat stability and a biphasic pH curve. The occurrence of the variant in two non-anemic relatives of the propositus indicates that the association between this G6PD type and anemia may be coincidental.
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PMID:Gd (+) Laguna, a new rare glucose-6-phosphate dehydrogenase variant from Brazil. 669 29

The term preleukemia may be used to refer to patients with acquired chronic cytopenias (refractory anemia with an excess of blast cells, refractory sideroblastic idiopathic anemia, or others idiopathic refractory cytopenias) who develop acute myeloid leukemia (AML) months or years later. In these syndromes, an abnormal bone marrow karyotype is found in about 50% cases, like in de novo AML. These abnormalities are similar to those observed in AML (mostly +8, -7, -5 or 5q-). The translocations t(8;21) and t(15;17) are never observed in preleukemia. Correlations exist between hematological data and cytogenetic features namely, in the 5q- syndrome. Thus in preleukemia the cytogenetic analysis is a valuable diagnostic method. At the present time, the prognostic value of the bone marrow karyotype is not clearly established but in single chromosome deletions (5q-, 20q-) the acute transformation is rare or delayed. At the opposite, evolution of the karyotype is generally regarded as a progression to high malignancy.
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PMID:[The bone marrow karyotype in refractory anemia and preleukemia]. 676 84

Twenty-nine patients with bladder carcinoma treated with intravesical thiotepa administration were reviewed to assess hematologic toxicity. Ten of 25 consecutive patients had at least one episode of acute myelosuppression. Thrombocytopenia was the most common abnormality; anemia was uncommon. Acute suppression occurred most often within the first three months of therapy and was dose related. One of the 25 patients and four additional patients had chronic myelosuppression; all were male. They were older and had received more thiotepa over a longer period than those patients without chronic myelosuppression. Thrombocytopenia was again the most common abnormality. Anemia was nearly as frequent in this subpopulation and may herald chronic blood dyscrasia. One patient had refractory anemia with an excess of blast forms; another had smoldering leukemia. Acute and chronic forms of myelosuppression were not related. Thiotepa treatments should be limited to 90 mg/mo and protracted therapy avoided in elderly men.
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PMID:Hematologic effects of intravesicular thiotepa therapy for bladder carcinoma. 677 97

An adolescent girl with retarded development, delayed puberty, and hypergammaglobulinemia had anemia unresponsive to iron therapy that was cured when a mass of mediastinal giant lymph node hyperplasia was removed surgically. Rapid growth and development of secondary sexual characteristics occurred after operation. Follow-up studies made 20 years after operation showed compensated increased erythrocyte hemolysis and increased serum IgM. When mediastinal giant lymph node hyperplasia with abundant plasma cells is seen in childhood, there may be refractory anemia and immune disturbances. Similar giant lymph node hyperplasia without plasma cells may be found in an asymptomatic child or adult. The pertinent features of the few symptomatic cases reported are reviewed.
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PMID:Mediastinal lymph node hyperplasia, hypergammaglobulinemia, and anemia. 737 3

A 34-year-old man was admitted with lumbago and anemia in November 1992. Hematological examination revealed an Hb 9.2g/dl, WBC count 13,500 microliters (33% blasts), and monocyte count 3,400/microliters. Bone marrow examination showed hyperplasia with dysplasia in trilineage blood cells and increased blasts (21.8%). A diagnosis of refractory anemia with excess of blasts in transformation (RAEB in T) was made. Cytochemical examination revealed the neutrophils in the peripheral blood were 66.5% positive for alpha-naphthyl butyrate esterase inhibited by sodium fluoride, 4.0% positive for peroxidase and 75% positive for alkaline phosphatase. The results of immuno-alkaline phosphatase stainings (avidin biotin alkaline phosphatase complex method) of neutrophils were as follows; CD16 (94.5%), CD24 (91.0%), CD13 (93.0%), CD14 (52.5%), CD33 (39.0%), CD36 (16.5%), HLA-DR (17.0%). These neutrophils exhibited monocyte-specific features and failed to show characteristics of neutrophils.
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PMID:[CD14-positive and nonspecific esterase-positive neutrophils in a patient with refractory anemia with excess of blasts in transformation]. 750 51

A 42-year-old man was admitted to our hospital because of pancytopenia in April 1992. A diagnosis of refractory anemia was made. The karyotype was normal male type on the initial study. Subcutaneous administration of granulocyte colony-stimulating factor (G-CSF) initially increased the peripheral neutrophil count, bat in January 1993, although blast cells did not increase, neutrophils had decreased in spite of the continuation of G-CSF administration. Chromosome analysis showed 46XY, +Y, -7 at this point. By adding 50 mg of cytarabine ocfosfate (SPAC) daily, the peripheral neutrophil count again rose dramatically. However, anemia, thrombocytopenia and the chromosomal abnormality were unchanged. These results indicate that SPAC may upregulate the effect of G-CSF on granulopoiesis in patients with myelodysplastic syndrome.
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PMID:[Effects of cytarabine ocfosfate on colony-stimulating factor in myelodysplastic syndrome with monosomy 7]. 752 5

Cytogenetic analysis of bone marrow cells from a patient with anemia, marked leukocytosis with eosinophilia, and thrombocytopenia showed monosomy 7 in all metaphases examined. The patient has refractory anemia (RA) according to FAB classification. Because of the hypereosinophilia of the patient, PCR technique was performed and no bcr-abl mRNA, specific for chronic myelogenous leukemia, was detected. Monosomy 7 has not been previously described in cases with hypereosinophilia. We assume, according to previous reports, that multiple genetic lesions can be involved in the pathogenesis of hypereosinophilia in this patient.
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PMID:Hypereosinophilia associated with monosomy 7. 769 37

An inherent defect of erythroid differentiation at the colony-forming unit blast (CFU-blast) compartment and (or) an impaired response of early erythroid progenitors (BFU-E) to growth stimulation are both considered to contribute to anemia in myelodysplastic syndromes (MDS). With the intention of improving survival and growth of early erythroid progenitors we investigated the effect of stem-cell factor (SCF) and interleukin-3 (IL-3) alone and in combination with erythropoietin, on the in vitro erythropoiesis of 13 patients with MDS and of three normal controls. SCF and IL-3 alone did not promote erythroid colony growth in MDS, while 3 cases responded to erythropoietin alone. In each of these, BFU-E colony growth could be increased by SCF, which was also found in all normal bone marrows. Altogether 6 cases showed a significant enhancement of BFU-E colony numbers by the combination of SCF and erythropoietin as compared to erythropoietin alone (P = 0.036). Out of the 6 responding cases, 5 belonged to the FAB-classified subgroups refractory anemia (RA) and refractory anemia with ringed sideroblasts (RA/RS) (5/5), while 1 patient was classified as having refractory anemia with excess of blasts (RAEB) (1/4). No patient with refractory anemia with excess of blasts in transformation (RAEB-T) (0/4) responded. In spite of these positive effects, the absolute number of BFU-E colonies remained reduced in all MDS cases when compared to normal controls. IL-3 proved ineffective in increasing the response to erythropoietin in MDS although it increased erythropoietin-induced BFU-E formation in normal controls significantly. We conclude that the striking synergistic effect of SCF and erythropoietin on erythroid colony formation seen with normal bone marrow is conserved in most cases with RA and RA/RS. In RAEB and RAEB-T the intrinsic defect of the erythroid differentiation pathway cannot be overcome by SCF.
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PMID:The effect of stem-cell factor, interleukin-3 and erythropoietin on in vitro erythropoiesis in myelodysplastic syndromes. 779 98

An infant with severe combined immunodeficiency is described in whom a refractory anemia and thrombocytopenia developed after the age of 6 months, associated with poor growth and frequent episodes of upper respiratory tract infections and diarrhea. He required frequent blood and platelet transfusions. Bone marrow biopsy provided evidence that the anemia and thrombocytopenia were the results of myelofibrosis which was secondary to vitamin D deficiency. Therapy with 1,25-dihydroxycholecalciferol resulted in resolution of the hematologic and skeletal abnormalities, but he remained susceptible to recurrent serious infections and died at the age of 13 months.
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PMID:Myelofibrosis in severe combined immunodeficiency due to vitamin D deficiency rickets. 861 Apr 83

We investigated the hematological and clinical status of 145 patients with de novo myelodysplastic syndrome (MDS), 14 of whom (10%) had eosinophilia in the bone marrow (MDS-Eo). Most of these 14 patients had severe anemia. Their bone marrow cells exhibited trilineage dysplasia and some morphological abnormalities in the eosinophils, including disproportion of eosinophilic granules, basophilic granules, a ring-shaped nucleus, and vacuolation in the cytoplasm. However, these abnormalities were less prominent than those of acute myelomonocytic leukemia with eosinophilia (FAB: M4Eo). Three of the 14 MDS-Eo patients had refractory anemia (RA), seven had RA with excess of blasts (RAEB), and four had RAEB in transformation. Cytogenetic analysis revealed chromosomal abnormalities in 12 of 13 MDS-Eo patients (92%), in particular, there were major karyotypic abnormalities (MAKA) in eight patients (62%). Cytotoxic agents were not effective in the treatment of four patients after leukemic transformation occurred. These four patients died of the leukemic transformation while seven died of bone marrow failure. The other three MDS-Eo patients are still alive; two of them have already transformed to a leukemic phase. The duration of survival of these patients was significantly shorter than that of the other MDS patients. These findings suggest that bone marrow eosinophilia in MDS may be a poor prognostic factor that is strongly related to the existence of MAKA.
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PMID:Myelodysplastic syndrome with bone marrow eosinophilia: clinical and cytogenetic features. 787 7


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