Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019045 (hemoglobinopathies)
 2,704 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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

The first reported case of hereditary spherocytosis (HS) and glucose-6-phosphate dehydrogenase deficiency in a black is presented. The recent literature is reviewed, with emphasis on the frequency of multiple inherited RBC defects in this ethnic group. Despite a coexisting hemoglobinopathy or enzyme deficiency, HS can be diagnosed in most cases by the peripheral blood smear, osmotic fragility curve, and family history. The implications of the double RBC abnormality are discussed, stressing the importance of splenectomy in relieving the hemolytic component due to spherocytosis.
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PMID:Hereditary spherocytosis and glucose-6-phosphate dehydrogenase deficiency. 57 20

A 14-year-old boy with hemoglobin SC disease and alpha-thalassemia-2 experienced five episodes of acute splenic sequestration crisis (ASSC), while two of his siblings with identical globin genotypes (SC and -alpha/alpha alpha) had no such experience. To determine if an additional red blood cell (RBC) defect was responsible for the unusual occurrence of frequent ASSCs, we performed detailed rheologic characterization and membrane protein analysis on RBCs from the proband and other members of his family. Reduced surface area, increased mechanical instability, and decreased spectrin content of the membrane, distinguishing features of RBCs in hereditary spherocytosis, were observed in cells from the proband and his mother, but not in cells from other family members. These findings are consistent with the dominant inheritance of spherocytosis by the proband. We suggest that the combined effects of SC disease and spherocytosis in the proband resulted in decreased RBC deformability and led to increased splenic trapping, intrasplenic sickling, and consequently, recurrent sequestration crisis. Marked clinical and hematologic improvement occurred from splenectomy. Thus, inheritance of interacting genetic defects, sickling hemoglobinopathy, and hereditary spherocytosis appear to be responsible for the unusual clinical manifestation of recurrent ASSC in this patient.
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PMID:Recurrent acute splenic sequestration crisis due to interacting genetic defects: hemoglobin SC disease and hereditary spherocytosis. 229 90

The glycated hemoglobin (GHb) is lowered by hemolytic anemia. The cation-exchange HbA1 has been shown to be lowered by hereditary spherocytosis (HS). The HbA1, however, can be increased by elevations of fetal hemoglobin (HbF). The affinity GHb, a parameter related to, but not identical with, the HbA1, and unaffected by HbF, has been shown to be low in hemoglobinopathies but not, to our knowledge, in HS and other non-hemoglobinopathic hemolytic anemias. Therefore, the affinity GHb and HbF was determined in four members of an HS family and in nine other cases of non-hemoglobinopathic hemolytic anemia, including three autoimmune hemolytic anemias, four red cell fragmentation syndromes (two "Waring blender" syndromes, one thrombotic thrombocytopenic purpura in association with tumor, and one case of disseminated intravascular coagulation), and two red cell membrane defects: paroxysmal nocturnal hemoglobinuria and another case of hereditary spherocytosis. The GHb for these nine cases was 3.6 +/- 1.7 percent (normal 6.0 +/- 2.0 percent; p less than 0.001). The reticulocyte count, available in four cases, was 0.23 +/- 0.14 and correlated negatively with the GHb. The average GHb in the HS family was 3.9 +/- 0.8 percent, which was significantly less than the normal of 6.0 +/- 2.0 percent (p less than 0.001); the HbF was less than 1.0 percent. It is concluded that the GHb is diminished in hemolytic anemias not associated with hemoglobinopathies and that this lowering reflects the shortened red cell life span in these processes. To our knowledge, this is the first report of low GHb in hemolytic anemia not associated with hemoglobinopathy, by the affinity chromatographic technique, as opposed to the cation-exchange chromatographic technique.
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PMID:The affinity glycated hemoglobin in a family with hereditary spherocytosis and in other non-hemoglobinopathic hemolytic anemias. 244 53

Plasma 125I-albumin was used as a marker of extracellular dilution in order to study the effect of high-speed centrifugation on transmembrane water distribution in several types of human red cells, including normal (AA), hemoglobin variants (beta A, AS, SC, beta S, and SS), and those from patients with hereditary spherocytosis. SS and AA erythrocytes were also examined for changes in intracellular hemoglobin concentration of three different density fractions and with increasing duration of spin. The minimum force and duration of centrifugation required to impair water permeability were found to vary with the red cell type, the anticoagulant used (heparin or EDTA), the initial hematocrit of the sample centrifuged, as well as among the individual erythrocyte fractions within the same sample. When subjecting pathologic erythrocytes to high-speed centrifugation, the 125I-albumin dilution technique can be used to determine whether the centrifugation procedure has led to an artifactual red cell water loss and to correct for this when it does occur. An abnormal membrane susceptibility to mechanical stress was demonstrated in erythrocytes from patients with hereditary spherocytosis and several hemoglobinopathies.
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PMID:Effects of centrifugation on transmembrane water loss from normal and pathologic erythrocytes. 264 54

The pocked (pitted or vacuolated) erythrocyte count has become increasingly utilized as a simple inexpensive test of splenic reticuloendothelial function. Values are less than 2.0% in normal subjects and 20 to 70% following splenectomy. Because scant and conflicting data are available about pocked erythrocyte measurements in hemolytic anemias other than the hemoglobinopathies, we performed pocked erythrocyte counts in 27 patients with hereditary spherocytosis. Prior to splenectomy patients often had elevated values (mean 4.9%). This unexpected observation suggests that hemolytic anemia may result in congestion of the red pulp and/or induced mild splenic reticuloendothelial blockade. As expected, but contrary to a previous report, pocked erythrocyte values following splenectomy were markedly increased (mean 54.9%).
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PMID:Pocked erythrocyte counts in patients with hereditary spherocytosis before and after splenectomy. 360 74

Deformability is a basic characteristic of red blood cells; its regulating factors are presently well known (surface volume ratio, internal viscosity, viscoelastic properties of the membrane). The contribution of each of these factors in the pathogeny of hemolytic anemias has not been fully established. We report 64 hereditary hemolytic anemias in which we studied the deformability, using a visco-diffractometric method (ektacytometer) on whole blood and various subpopulations separated by density. Comparison of the response of the cells submitted to isotonic and hypotonic media allows the determination of the respective contribution of viscosity and surface volume ratio. Deformability is always decreased in red blood cell membrane diseases and in homozygous or double heterozygous hemoglobinopathies; on the other hand, deformability is normal in all the enzymopathies studied. This decrease could be due either to one regulation factor (increase of internal viscosity easily demonstrated by this method in hereditary xerocytosis and hemoglobin CC) or to several parameters: increase of internal viscosity and decrease of surface volume ratio in hereditary spherocytosis.
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PMID:[Study of erythrocyte deformability using visco-diffractometry (ektacytometry) in hereditary hemolytic anemias]. 673 86

In order to investigate the tyrosine phosphorylation of band 3, we performed immunoblotting of intact red cells using anti-phosphotyrosine antibody of 21 patients with sickle cell disorders (11 SS, 5 Sbeta, 5 SC), 7 patients with beta thalassemias (5 beta thal intermedia, 2 deltabeta thal), 10 normal controls, and 1 patient with hereditary spherocytosis. They had not received transfusion for the last 4 months and all were clinically stable. Our results showed an increased tyrosine phosphorylation of two proteins, in the 100 and 80 kD regions, in sickle cell and beta-thalassemic red cells when compared to the normal controls and to the patient with hereditary spherocytosis. Immunoprecipitation of the lysed red cells with anti-band 3 antibody and immunoblotting with anti-phosphotyrosine antibody confirmed that the 100 kD tyrosine phosphorylated protein was band 3. In the sickle cell disease group, the band 3 tyrosine phosphorylation varied from 2- to 10-fold increase compared to control (x +/- SD; SS = 7.8- +/- 2.7-fold; SC = 3.8- +/- 1.3-fold; Sbeta = 5.2- +/- 2.0-fold). It was also higher in the beta-thalassemic group (beta-thal = 4.3- +/- 3.7-fold). There was no significant difference in tyrosine phosphorylation among the various groups tested, except when we compared the phosphorylation in intact red cells of patients with sickle cell anemia and hemoglobinopathy SC (U = 6, P < 0.02). The tyrosine phosphorylation of band 3 was increased in hemoglobinopathies even in the absence of high reticulocyte count. At least two mechanisms might be involved in the increased tyrosine phosphorylation of band 3 in these hemoglobin disorders, probably related to the endogenous reactive oxygen intermediates generated by the abnormal erythrocyte: an inhibition of protein tyrosine phosphatase activity or an activation of the protein tyrosine kinase p72syk.
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PMID:Increased tyrosine phosphorylation of band 3 in hemoglobinopathies. 966 75

The records of 22 children with parvovirus B19-induced aplastic crisis were reviewed. The group consisted of 16 children with sickle cell hemoglobinopathies and 6 with hereditary spherocytosis. Children presented to the hospital 0.5 to 8 days (mean, 2.4 days) after the onset of symptoms. The children with sickle-cell disease presented earlier (mean, 1.4 days) than did children with hereditary spherocytosis (mean, 5 days; P = 0.02. Fever was the most common symptom, occurring in 73% of children. Rash did not occur in either group. Reticulocyte counts began to rise 1 week after onset of illness associated with a rise in parvovirus B19-specific IgG antibody. These data suggest that parvovirus B19 infection in children with sickle-cell hemoglobinopathies and heredity spherocytosis differs from infection in normal children.
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PMID:Clinical presentation of parvovirus B19 infection in children with aplastic crisis. 1468 75

Hemolysis presents as acute or chronic anemia, reticulocytosis, or jaundice. The diagnosis is established by reticulocytosis, increased unconjugated bilirubin and lactate dehydrogenase, decreased haptoglobin, and peripheral blood smear findings. Premature destruction of erythrocytes occurs intravascularly or extravascularly. The etiologies of hemolysis often are categorized as acquired or hereditary. Common acquired causes of hemolytic anemia are autoimmunity, microangiopathy, and infection. Immune-mediated hemolysis, caused by antierythrocyte antibodies, can be secondary to malignancies, autoimmune disorders, drugs, and transfusion reactions. Microangiopathic hemolytic anemia occurs when the red cell membrane is damaged in circulation, leading to intravascular hemolysis and the appearance of schistocytes. Infectious agents such as malaria and babesiosis invade red blood cells. Disorders of red blood cell enzymes, membranes, and hemoglobin cause hereditary hemolytic anemias. Glucose-6-phosphate dehydrogenase deficiency leads to hemolysis in the presence of oxidative stress. Hereditary spherocytosis is characterized by spherocytes, a family history, and a negative direct antiglobulin test. Sickle cell anemia and thalassemia are hemoglobinopathies characterized by chronic hemolysis.
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PMID:Hemolytic anemia. 1520 94


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