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)

The structural polypeptides and glycoproteins of equine infectious anemia virus were identified following electrophoresis in SDS-PAGE. The major non-glycosylated polypeptides had molecular weights of 25,000, 14,000 and 11,000 daltons. Two glycoproteins of 80,000 and 40,000 daltons were also detected. The relationship of these components to the structural elements of mammalian C-type oncoviruses is discussed.
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PMID:The structural polypeptides of equine infections anemia virus. 20 75

The clinical heterogeneity and the role of red cell membrane protein band 7 in membrane transport were studied in 44 patients with hereditary stomatocytosis with normal red cell membrane lipids. These patients were arbitrarily categorized into three phenotypes, based on the extent of sodium influx: hereditary stomatocytosis Type I: with markedly increased Na influx (8.90 +/- 3.39 mmol/lRBC/h); Type II: with moderately increased Na influx (2.10 +/- 0.79) and Type III with normal Na influx (1.31 +/- 0.13). The three groups of patients were compared with normal controls (1.29 +/- 0.14). The extent of anaemia and jaundice was almost identical in the three groups in the presence of nearly the same degree of stomatocytosis (I: 54.8 +/- 10.7%, II: 38.8 +/- 12.8, and III: 40.2 +/- 10.8). Approximately one third of the cases (14/44) with hereditary stomatocytosis showed no overt haemolysis even with marked stomatocytosis. Cell hydration was abnormal in Type I (MCV 119.6 +/- 8.5 fl, MCHC 29.3 +/- 1.8%) but normal in Types II and III (MCV 98.2 +/- 11.7, 94.1 +/- 8.5; MCHC 34.4 +/- 2.1, 34.5 +/- 2.2). These results indicate that there was no correlation between the extent of Na influx and either the degree of stomatocytosis or the extent of overt haemolysis. The role of band 7 in membrane transport was also studied. Three components (30 kD, 28 kD and 26 kD polypeptides) of band 7 were analysed by SDS-PAGE and NEPHGE/SDS-PAGE, and the content of these polypeptides were expressed as the ratio to band 5. The 30 kDa polypeptide in the three groups was nearly identical to that in normal controls (12.3 +/- 4.0), except for non-haemolysing patients in Type II. The 28 kD peptide was also decreased in five out of nine cases of Type II (25.7 +/- 5.6) as compared with normal controls (32.9 +/- 3.6) and cases of Type I (35.8 +/- 2.8) and Type III (32.7 +/- 2.9). No deficiency of this peptide was noted in Type I patients. No correlation was observed between the content of the 28 kD polypeptide and Na influx (r = 0.416), but the 26 kD polypeptide tended to be elevated in cases with overt haemolysis. These results suggest that band 7 may not be essentially involved in the formation of stomatocytic changes, although the presence of subtle defects in band 7 structure and function may not be ruled out. The present findings provide an important starting point to initiate further extensive investigations.
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PMID:Hereditary stomatocytosis: phenotypical expression of sodium transport and band 7 peptides in 44 cases. 141 88

A large variant of erythrocyte beta-spectrin was found in a child presenting with hereditary elliptocytosis and anaemia. This polypeptide was phosphorylated, cross-reacted with normal beta-spectrin in immunoblotting and formed a dimer with alpha-spectrin that co-purified with normal alpha beta dimer. The molecular weight was estimated to be 330 kD by SDS gel electrophoresis, which is 84 kD (35%) larger than the normal beta-chain. This variant has been tentatively named spectrin Detroit (beta Detroit). Tryptic digests demonstrated a coexisting alpha-spectrin variant Sp alpha I/65 in the propositus, his father and a paternal uncle. Anaemia and elliptocytosis was associated with Sp alpha I/65 rather than beta Detroit, since other family members with beta Detroit in whom alpha-spectrin was normal had no morphological or clinical abnormalities. Family members were identified who had normal alpha-spectrin but were heterozygotic for the large beta-spectrin. Their erythrocyte membranes were more rigid and fragile than normal. The fragility is probably a consequence of both weaker dimer association and spectrin deficiency. Variant spectrin dimers (alpha beta Detroit) had a reduced self-association constants. Binding to ankyrin was normal. Instability of beta Detroit during erythropoiesis is suggested by the fact that it comprises only 25% of the beta-spectrin in beta Detroit heterozygote erythrocytes, and total spectrin was reduced by 20%. Although beta Detroit has some functional defects, this 84 kDa insert in erythrocyte spectrin is compatible with nearly normal function.
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PMID:A large erythroid spectrin beta-chain variant. 153 11

It is generally considered that abnormality of the erythrocyte membrane skeleton co elliptocytes. There are, however, few reports of beta spectrin variants. We found a new variant of beta spectrin in a child and her mother. This report is the first case of abnormality of beta spectrin in Japan. The propositus was an 8 month-old girl who was first examined by us in 1988. On laboratory findings, she showed anemia, increased reticulocyte count and decreased haptoglobin concentration. Both peripheral blood smears of patient and her mother showed typical elliptocytosis and they were diagnosed as hereditary elliptocytosis. SDS-PAGE patterns of the red cell membranes of the propositus and her mother were characterized by the presence of an abnormal component migrating immediately below the spectrin chains. We confirmed that the abnormal spectrin appeared clearly at the expense of normal beta chain. The abnormal spectrin (M.W. 216,000d) makes up 16% of the total beta chain. The inheritance of our case was autosomal dominant. The present case is considered as a new spectrin variant.
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PMID:[Abnormalities of beta spectrin with hereditary elliptocytosis in mother and child]. 163 63

The replicative form (RF) DNA of chicken anaemia agent (CAA) was isolated and cloned into bacterial plasmids. After religation of the cloned CAA DNA and transfection into MDCC-MSB1 cells, the DNA could induce c.p.e. characteristic of that caused by CAA, and an antigen was produced which gave positive immunofluorescence when detected with an anti-CAA serum. Sanger sequencing of the 2298 bp genome revealed several open reading frames (ORFs); the major ORF encoded a polypeptide of 51.8K. In SDS-PAGE of CAA viral particles a 50K protein has been reported as the only detectable viral protein. The genomic region downstream of the major ORF had several predicted GC-rich inverted repeats, a poly(A) signal and four copies of an 18 bp repeat element. Database searches did not reveal any sequence with homology to the viral genomic DNA, nor to the amino acid sequence of any of the ORFs, apart from the N-terminal 40 amino acids of the major ORF which showed a limited similarity to the structure of protamines.
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PMID:Molecular cloning and sequence analysis of the genome of chicken anaemia agent. 190 16

We describe here a novel immunoassay procedure, designated strip-ELISA (S-ELISA), in which specific antigens are purified by SDS-PAGE, transferred to support membranes, and utilized in situ as substrate in routine ELISA procedures. Using two different lentivirus systems, simian immunodeficiency virus and equine infectious anemia virus, we demonstrate the utility of S-ELISA for screening hybridoma supernatants during production of monoclonal antibodies and for the dissection of polyclonal antibody responses into defined antigen specificities. The data presented here indicates that the S-ELISA combines the sensitivity of conventional ELISA with the specificity afforded by Western blotting procedures, producing a relatively simple and versatile assay for evaluating antibody reactivities.
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PMID:Analysis of antibody reactivities in ELISA using protein blots as antigen substrates: S-ELISA. 215 66

We have partially purified and characterized erythropoietin (Epo) receptors of erythroid progenitor cells which were obtained from the spleens of anemia-inducing Friend virus infected mice. Membrane proteins of splenic erythroid progenitor cells were solubilized with 1% Triton X-102. Upon chromatography on DEAE-Sephacel anion-exchange columns, two distinct Epo receptor peak fractions referred to as Peak I and Peak II were identified by 125I-Epo binding assays using the polyethylene glycol precipitation method. The Peak I and Peak II samples were then individually chromatographed on an S-Sepharose column. The S-Sepharose-purified Peak I and Peak II samples were crosslinked with 125I-Epo in the presence and absence of excess unlabeled Epo by disuccinimidyl suberate treatment, and then analyzed by sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE) and autoradiography. Both Peak I and Peak II samples showed a radiolabeled peptide with a Mr 135K and the labeling was blocked by excess unlabeled Epo. Since the Mr of Epo is about 35K, Epo receptor peptide has a Mr approximately 100K. To determine whether Epo stimulates autophosphorylation of the receptors, the S-Sepharose-purified Peak I and Peak II samples were incubated with or without Epo, and then briefly incubated in the presence of [gamma-32P]ATP and Mn2+. The tyrosine residue phosphorylated protein was isolated by an immunochemical technique, and then analyzed by SDS-PAGE and autoradiography. The result showed that Epo stimulates phosphorylation of a 100-kDa peptide.
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PMID:Partial purification and characterization of erythropoietin receptors from erythroid progenitor cells. 215 83

This immunoglobulin abnormality was found in the serum of a 33 years old man presenting with anemia, weight loss, bone pain and a single bone lesion. The cellulose acetate electrophoresis of his serum showed 2 homogeneous bands migrating in the gamma and alpha-2 regions. Agar gel immunoelectrophoresis using anti-whole normal serum revealed 2 abnormal precipitin arcs of gamma-2 and alpha-2 respective mobility. These 2 M-components precipitated with anti-human kappa light chain antiserum but failed to react with lambda-light chain specific and H-chains specific anti-sera. Furthermore, the 2 monoclonal kappa chains were still demonstrated in the supernatant of the se-rum treated with 50% saturated ammonium sulphate. The 2 kappa chains were isolated from the supernatant using goat anti-kappa antibodies bound to Sepharose-4B. Their SDS-polyacrylamide gel electrophoresis pattern showed a single protein band of 25 Kd molecular weight. This suggest the presence of 2 monomeric kappa chains of different clonal origin. Subsequently, the difference in their electrophoretic mobility was probably due to different V-kappa sequences. However, it is also possible that the unusual alpha-2 mobility is a consequence of a moderate glycosylation without increase in molecular weight.
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PMID:Biclonal gammopathy of kappa light chain type in a case of multiple myeloma. 251 43

A 62 year old male (R.H.) presented with a mild anemia (Hb 11-12 gm%) and a history of multiple hemorrhagic episodes. The marrow had 40-50% sideroblasts. Marrow chromosomes were normal. His wife was hematologically normal, while one daughter, age 30 years, had a sideroblastic anemia (Hb 11-12 gm%) with 40-50% sideroblasts in the marrow. Her anemia was first noted at age 15 years. Administration of vitamin B6 did not correct the anemia in either the father or daughter. Platelet abnormalities inherited jointly with this disorder are described for the first time. Both R.H. and his daughter had prolonged bleeding times, with normal PTT, PT times, fVIII:C, fVIII:Ag levels, and vWF multimers, which may rule out a von Willebrand's disease. They have normal platelet numbers but abnormally low platelet adhesiveness and greatly depressed ADP, collagen, and epinephrine responsiveness. Response to ristocetin was in the low normal range, and aggregation with thrombin was normal. While desmopressin completely normalized R.H.'s bleeding time, none of these platelet parameters were improved. No differences in the SDS PAGE protein patterns of RH platelets could be detected in comparison to normal samples. His platelets took up and released serotonin (5HT) normally, and electron micrographs defined no morphological abnormalities. However, no ATP was released from platelets activated with collagen, and when followed by thrombin about fourfold greater ATP was released by control platelets as compared to RH platelets. The dense granule fraction derived from RH platelets contained about 20% the level of ATP, 40% the level of ADP, and 50% the level of 5HT detected in a normal sample. The results indicate that the bleeding disorder is related to a non-classical heritable storage pool defect. The connection between the inherited sideroblastic anemia and platelet defects is obscure.
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PMID:Hereditary sideroblastic anemia with associated platelet abnormalities. 281 25

In a case of 'spur cell anaemia' (SCA) a reduced esterified/free cholesterol ratio was found in plasma, in LDL and HDL fractions and an increased cholesterol/phospholipid (C/PL) molar ratio in erythrocyte membrane. Cation transport was normal with the exception of Li-Na counter-transport was decreased. An increased intrinsic membrane proteolytic activity (IMPA) was demonstrated by the generalized reduction or, sometimes, disappearance of protein bands on SDS-PAGE in patient ghosts when the proteolysis was allowed. This characteristic was found to be transferable to normal cells by incubation in SCA-plasma; moreover membrane C/PL molar ratio was augmented after incubation. Normal plasma was not able to normalize IMPA of SCA cells 'in vitro', even if it induced a remarkable decrease of membrane C/PL molar ratio. Nevertheless IMPA normalization did occur 'in vivo', when the SCA cells were exposed to therapeutic 'plasma exchange' (3.3 litre/week). The results suggest the following conclusions: (a) in our SCA patient there is an increased IMPA; (b) this feature, as well as membrane lipid alteration, is transferable to normal erythrocytes; (c) this case seems to demonstrate, for the first time in our knowledge, a modulating effect of plasma on IMPA in erythrocytes.
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PMID:Increased proteolytic activity of erythrocyte membrane in spur cell anaemia. 306 3


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