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Query: UMLS:C0002895 (sickle cell disease)
 11,747 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Measurement of the proportion of abnormal hemoglobin in a hemolysate is essential for differentiation of simple and compound heterozygotes (e.g., sickle cell trait vs. sickle thalassemia), for differential of alpha- and beta-thalassemia in compound heterozygotes, and for differentiation of various types of beta-thalassemia in such persons. Utilization of such measurements is hampered by the imprecision and inconvenience of current methods. We have adapted a readily available agar electrophoresis method for this purpose, scanning unstained gels at 420 nm. The new method is particularly valuable for rapid estimation of percent of HbS after partial exchange transfusion in patients with sickle cell anemia. It cannot be used for quantitation of HbF or for quantitation of hemoglobins that comigrate with HbA; contrariwise, it can be used for hemoglobins that only separate from HbA on agar (e.g., HbBethesda).
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PMID:Quantitative analysis of abnormal hemoglobins by agar gel electrophoresis. 397 68

Genetic and biochemical evidence indicates that in beta-thalassemia there is impaired synthesis of the beta-globin chains of hemoglobin A. In patients heterozygous for the hemoglobinopathies, hemoglobin S and hemoglobin C, the mutant beta-chain is produced in smaller amounts than normal beta(A). Defective m-RNA translation has been suggested as a possible cause of decreased beta-globin polypeptide synthesis in thalassemia and the hemoglobinopathies. In the present study, the ribosomal assembly of beta-globin chains was examined in the peripheral, nucleated red blood cells and reticulocytes of patients with Cooley's anemia, thalassemia intermedia, sickle thalassemia, sickle cell anemia, hemoglobin C disease, and in hemolytic anemias not associated with a hemoglobinopathy. The translation times of beta(A), beta(S), and beta(C) did not differ significantly (average times; beta(A) = 75 sec, range 43-114, beta(S) = 69 sec, beta(C) = 92 sec). In thalassemia, no evidence was found for a delay in translation as the cause of the marked impairment of beta-globin synthesis. In several specimens of peripheral blood from thalassemic patients, the translation time of the beta-chain was even shorter than in nonthalassemic specimens (average time = 45 sec, range 35-59). The results suggest that the defect in beta-globin synthesis in beta-thalassemia is due to impaired initiation of beta-globin chain assembly or a quantitative deficiency in m-RNA.
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PMID:Translation of -globin m-RNA in -thalassemia and the S and C hemoglobinopathies. 500 20

There is a lack of information on the use of contraceptives among women with sickle cell disease in the United Kingdom, and 150 babies are born with sickle cell disease every year. This study examines the questionnaire responses of 156 women who had sickle cell disease and were known to the hematology departments and sickle cell centers in north London. 42 of the women had sickle cell hemoglobin C disease; 12 women had sickle thalassemia disease, and 102 had homozygous sickle cell disease. 149 were sexually active. The mean age was 28.4 years. 100 of the women had 207 pregnancies of which 133 were unplanned. 25 women with 31 pregnancies miscarried. 31 women (39 pregnancies) terminated the pregnancies for social or medical reasons. 4 (3 with homozygous sickle cell disease and 1 with sickle cell thalassemia) of the 67 women, who used combined oral contraceptives, reported increased crises, and 2 women, with homozygous sickle cell disease, reported deep vein thrombosis. 54 of the 148 sexually active patients had been counseled not to get pregnant. Only 3 women said this advice influenced their plans. There were only 44 women (28%) who adequately understood the inheritance patterns of sickle cell disease although 94 (60%) knew about the possibility of prenatal diagnosis. Many factors affect decision- making including a poor obstetric history and rejection of abortion on moral grounds. 45% have used oral contraceptives at one time or another and 19% used the intrauterine device. This is similar to use patterns in North America. The medical community may to blame for the inadequate use of contraceptives, because of not knowing which contraceptives to recommend in these cases. There are no contraindications to prevent sickle-cell women from using oral contraceptives.
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PMID:Contraceptives, counselling, and pregnancy in women with sickle cell disease. 840 Sep 60

The development of clinical and histopathologic manifestations of a diffuse elastic tissue defect, resembling inherited pseudoxanthoma elasticum (PXE), has been encountered with a notable frequency in patients with beta thalassemia, sickle cell disease, and sickle thalassemia. The PXE-like clinical syndrome, consisting of skin, ocular, and vascular manifestations, has a variable severity in these hemoglobinopathies and it is age-dependent, with a generally late onset, after the second decade of life. The defect is believed to be acquired rather than inherited and related to the consequences of the primary disease. The high prevalence of the findings implicates the elastic tissue injury as one of the main comorbid abnormalities encountered in beta thalassemia and the sickling syndromes. In these patients a number of complications, sometimes serious, has been recognized to be related to ocular and vascular elastic tissue defects. Because several organ systems are involved, each medical specialty should be aware of the phenomenon. This coexistence, on the other hand, introduces a novel pathogenetic aspect of PXE and an important research challenge.
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PMID:Elastic tissue abnormalities resembling pseudoxanthoma elasticum in beta thalassemia and the sickling syndromes. 1175 49

Acute multi-organ failure syndrome is a rare and life-threatening complication of patients with sickle cell disease. The syndrome appears to be reversed with prompt, aggressive exchange transfusion therapy. It has been attributed to widespread vascular occlusion due to micro-vascular red cell sickling. We present a case of severe multi-organ failure in a patient with sickle thalassemia and mild clinical course, who had clinical and laboratory features consistent with thrombotic thrombocytopenic purpura (TTP). The dramatic response to therapy with plasma exchange, a treatment often effective in TTP, suggests a similarity in pathophysiology of micro-vascular occlusion and multi-organ failure in sickle cell disease.
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PMID:Sicklemia with multi-organ failure syndrome and thrombotic thrombocytopenic purpura. 1248 29

Acute splenic sequestration crises (ASSC) is one of the complications of sickle cell disease (SCD) that can be life-threatening due to loss of blood volume. Over a 5-year period, we have treated 19 patients ranging in age from 4 to 32 years with ASSC. There were 14 males and 5 females; 17 had homozygous SCD and the other 2 had sickle thalassemia. Two patients presented with severe anemia and acute circulatory collapse; 1 of them developed residual weakness of his limbs and decreased visual acuity. Nine patients underwent splenectomy after major episodes of sequestration while the remaining 10 had recurrent minor episodes of sequestration. The clinical features and the role of splenectomy are discussed.
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PMID:Splenectomy and acute splenic sequestration crises in sickle cell disease. 2405 66