Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002895 (sickle cell disease)
 11,747 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The activities of orotate phosphoribosyl transferase (OPRT) and orotidine monophosphate decarboxylase (ODC) were significantly elevated (P less than 0.001) in erythrocytes (RBC) from five patients with prednisone-responsive congenital hypoplastic anaemia (CHA). (OPRT: patients - 10.1--64.2 nmol/h/10(9) RBC; controls - 2.8 +/- 0.3 (mean +/- SEM, n = 37); ODC: patients = 30--124 nmol/h/10(9) RBC; controls = 10.2 +/- 0.7 (mean SEM, n = 37).) Two patients had a less pronounced, but significant, increase of aspartate transcarbamylase activity and three patients had marginal increases of dihydroorotase activity. Dihydroorotate dehydrogenase activity was not detected in any CHA patient or control. In one patient prior to prednisone therapy, the OPRT and ODT activities were elevated 10-fold and remained elevated 3-fold after 16 months of therapy. An elevated enzyme pattern similar to that of RBC from CHA patients was observed in three parents of three CHA patients, but not in three parents of two other CHA patients. The activities of all five pyrimidine enzymes were normal for one patient with transient erythroblastopenia of childhood. In contrast, the activities of all the pyrimidine biosynthetic enzymes were elevated in blood from patients with a young RBC population: sickle cell anaemia, sickle-beta-thalassaemia, hereditary spherocytosis, and DiGuglielmo syndrome and from the newborn. It is postulated that factors which affect the activities of pyrimidine enzymes in CHA may also result in diminished erythropoiesis.
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PMID:Elevation of pyrimidine enzyme activities in the RBC of patients with congenital hypoplastic anaemia and their parents. 3 27

The density distributions of red cells from sickle cell disorders and other hematological diseases were determined. In sickle cell anemia there was an increase in the proportion of cells in both the heaviest and lightest fractions. In hemoglobin SC disease, a small fraction was shifted to heavier cells. Sickle cell trait blood had a normal density pattern. In hereditary spherocytosis an increase in the number of heavy cells was observed. Thin-layer polyacrylamide gel electrophoresis of red cell pyruvate kinase demonstrated that the pyruvate electrophoretic pattern was related to density distribution.
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PMID:Relationship of density distribution and pyruvate kinase electrophoretic pattern of erythrocytes in sickle cell diseases and other disorders. 10 Oct 7

A somewhat simplified modification of a previously described method for the measurement of red cell membrane phosphorylation by ATP has been devised. Phosphorylation of membranes was linear with time for only 5-10 min, and linearity with membrane concentration was observed only when assays were limited to short incubation times. Protein kinase activity of hereditary spherocytosis (HS) membranes was found to be normal. However, the average phosphorylation after 60 min incubation was less in HS membranes than in normal membranes. Findings similar to those in HS membranes were observed in sickle cell disease. The Km of red cell protein kinase for ATP is approximately 10(-5) M. Membrane phosphate binding sites are not saturated in either HS or normal membranes after 1 hr incubation with ATP. Approximately 27% of phosphorylating activity is lost after 1 hr incubation at 37 degrees C. GTP is a very inefficient phosphate donor. Under the conditions of measurement employed, the enzyme is slightly stimulated by 1 muM cAMP, but is not stimulated by 1 muM cGMP. Dephosphorylation of red cell membranes after labeling occurs at a similar rate in HS as in normal membranes. Although a mild abnormally in membrane phosphorylation is observed in HS, this could not be demonstrated to be due to a decrease in protein kinase activity or in alterations of its kinetic properties. The abnormally seen is not specific for HS.
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PMID:Human red cells protein kinase in normal subjects and patients with hereditary spherocytosis, sickle cell disease, and autoimmune hemolytic anemia. 18 65

A method of automated red cell analysis suitable for the rapid classification of large numbers of red cells from individual blood specimens has been developed, and preliminarily tested on normal bloods and clinically proven cases of anemias and red cell disorders. According to this method digital image processing techniques provide several features relating to shape and internal central pallor configurations of red cells. These features are used with a fully automated decision logic to rapidly provide a quantitative "red cell differential" analysis, a report of the percentage subpopulations of recognized categories of red cells. For each subpopulation, measurements of mean cell area, mean cell hemoglobin content and mean cell hemoglobin density are provided. The nine types of red cell disorders studied with this method were: (a) iron deficiency anemia, (b) the anemia of chronic disease, (c) beta-thalassemia trait, (d) sickle cell anemia, (e) hemoglobin C disease, (f) intravascular hemolysis, (g) hereditary elliptocytosis, (h) hereditary spherocytosis, and (i) megaloblastic anemia due to folic acid deficiency. Preliminary indications are that the red cell differential is useful in distinguishing between these conditions.
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PMID:An automated method of differential red blood cell classification with application to the diagnosis of anemia. 33 Jul 16

Center vertebral end-plate depression was originally reported to be pathognomonic for sickle cell disease. Two patients without hemoglobinopathy were found to have this deformity. One patient has congenital hereditary spherocytosis; the other has no blood dyscrasia but is osteopenic. Therefore, although this deformity is usually due to sickle cell disease, it is not pathognomonic.
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PMID:Vertebral end-plate depression: report of two patients without hemoglobinopathy. 40 87

To study the nature of numerous inclusion bodies seen in red cells from patients with sickle cell disease (Hb SS), we have prepared red cell ghosts free of oxyhemoglobin and analyzed them by spectrophotometric and heme extraction methods. The absorption spectrum in the visible region of the ghost suspensions was typical of hemichromes. The spectrum was similar to that of denatured hemoglobin repared by treatment of oxyhemoglobin S with mechanical shaking or heat. Similar treatment of cells containing only normal hemoglobin (Hb AA) showed a very small amount of denatured hemoglobin, approximately one-fifth of the amount in Hb SS cells. The amount of denatured hemoglobin determined after solution of membrane with 2.5% sodium dodecyl sulfate was 0.158+/-0.070% (1 SD) of the total cellular heme in Hb SS patients. In controls, the amount was 0.030+/-0.016%. Persons with Hb AA and reticulocytosis did not have an elevated amount of membrane-associated heme. In patients with hereditary spherocytosis and autoimmune hemolytic anemia, denatured stromal hemoglobin was normal or slightly elevated before and after splenectomy. The increased amount of denatured hemoglobin in Hb SS red cells may be related to the instability of sickle oxyhemoglobin.
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PMID:Denatured hemoglobin in sickle erythrocytes. 84 54

1. A brief review of recent results on the structure of erythrocyte membranes and the experimental deformation of red blood cells. 2. A discussion of factors playing a role in the deformability: a) Influence of shape, consisting of the cell surface to volume ration. b) Internal factors, depending mainly on the viscosity of the hemoglobin).c) Degree of flexibility of the membrane. 3. A brief summary of techniques to measure the deformability with emphasis on the method of viscodiffractometry (ektacytometer). 4. Results given by examination in the ektacytometer of hereditary spherocytosis and sickle cell anemia.
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PMID:[Erythrocyte form and deformability for normal blood and some hereditary hemolytic anemias (author's transl)]. 89 59

Shear stress is a potential cause of erythrocyte fragmentation and hemolysis in flowing blood. In this study, the response of abnormal human erythrocytes to shear stress in virto was evaluated using a concentric cylinder viscometer. Compared to normal red cells, deoxygenated erythrocytes from persons with sicle cell anemia were particularly susceptible to fragmentation and hemolysis by shear stress. Oxygenation of sicke cell blood improved the resistance of those red cells to shear stress; they remain, however, more susceptible to shear stress than normal erythrocytes. Erythrocytes from patients with iron deficiency, thalassemia minor, and erythrocyte pyruvate kinase deficiency showed fragmentation and hemolysis at threshold shear stresses intermediate between those ovserved for blood from patients with sickle cell anemia and normal persons. Blood samples from patients with hereditary spherocytosis were more resistant to shear stress than normal blood. These results indicate that there are important differences in the response of various red cells to shear stress.
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PMID:Fragility of abnormal erythrocytes evaluated by response to shear stress. 114 31

Hereditary hematologic disorders (HHD) have been reported in excess among infants and families of infants with congenital cardiovascular malformations (CCM) compared with controls, suggesting possible common pathogenetic mechanisms. It is plausible that hemodynamic changes during pregnancy associated with HHD could affect cardiac morphogenesis. To investigate whether offspring of women with selected HHD have an excess risk of CCM, the authors examined data from a nationwide birth defects monitoring program (BDMP) covering about 2.9 million births in the United States between 1982 and 1988. The system ascertains major birth defects diagnosed in the newborn period. An anonymous linkage procedure linked maternal obstetric records with newborn records using demographic, diagnostic, and geographic variables. A total of 1,239 mothers were identified with selected HHD (47 hereditary spherocytosis, 575 thalassemias, 310 sickle cell anemia, 88 other hereditary hemolytic anemias, 159 von Willebrand disease, and 60 other congenital coagulopathies). In all, 14 infants received a newborn discharge diagnosis of CCM (expected number based on population rates of CCM from the same hospitals and time period is 7.74; P = 0.0268). No single CCM entity accounted for this excess. In contrast, 8 infants had major non-CCM defects (expected number 7.46; P = 0.466). These data suggest an excess risk of CCM among offspring of women with selected HHD. Further studies are needed to explore these findings and to evaluate the pathogenetic significance of this association.
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PMID:Are offspring of women with hereditary hematologic disorders at increased risk of congenital cardiovascular malformations? 180 11

Since June 1990, five girls and one boy have been evaluated for biliary colic. Gallstones were documented by sonography. Two girls, ages 8 and 14 years, had hereditary spherocytosis, and a 9-year-old boy had sickle cell disease. The other three girls, ages 13, 13, and 15 years, developed cholelithiasis and biliary colic without a history of hematological disease. Three children weighed less than 90 lb, with the smallest weighing 45 lb. All patients underwent laparoscopic cholecystectomy without complications. Operative cholangiography was performed in five of the six children. The KTP-532 laser was used for dissection of the gallbladder from the liver bed in two patients, and electrocautery was used in the remaining four. The average operating time was 1 hour 45 minutes. This is a report of the use of laparoscopic cholecystectomy in pediatric patients. The advantages of its use include a shorter hospitalization, decreased postoperative discomfort, and a much shorter interval between the surgical procedure and return to normal activities such as school and play. At this time, it is recommended for those children without complications from their cholelithiasis such as common duct obstruction and gallstone pancreatitis.
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PMID:Laparoscopic cholecystectomy in the pediatric patient. 183 14


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