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Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Reports of acute splenic sequestration crises in adults with sickle cell hemoglobin C disease or sickle cell thalassemia are rare, although an enlarged and distensible spleen persists in half of these patients. Seven episodes of acute splenic sequestration crises in four adults, two with sickle C disease and two with sickle thalassemia, are described. The crises were life-threatening and recurrent in all, but there were no fatalities. One patient had mild steady-state thrombocytopenia suggesting hypersplenism. Technetium 99m/sulfur colloid scanning of the spleen during the acute splenic sequestration crises in three patients showed almost total lack of splenic uptake or decreased uptake with intrasplenic filling defects thought to be splenic infarcts or hematomas on follow-up computed tomographic scanning. The scanning abnormalities resolved following recovery from the crises. Acute splenic sequestration crises probably are common in adults with sickle C disease and sickle thalassemia but may be underdiagnosed or misdiagnosed as splenic infarctions. The hematologic and splenic findings during acute splenic sequestration crises resemble those following splenic vein ligation in animals.
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PMID:Acute splenic sequestration crises in adults with sickle cell disease. 370 82

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

In five patients with sickle beta-thalassemia there was balanced alpha- and beta-globin synthesis in the bone marrow and decreased total beta-chain synthesis relative to that of alpha-chain in the peripheral blood. These findings are similar to those in patients with simple beta-thalassemia trait. Despite a range of hemoglobin concentrations from 6.8 to 12.5 g/100 ml in the patients with sickle thalassemia, there was no evidence of a significant excess of alpha-chains in the red cells of the bone marrow which could contribute to the hemolysis and anemia. In patients heterozygous for beta-thalassemia the capacity to synthesize beta-chain decreases more rapidly than that for alpha-chain. In nonthalassemic subjects the rates of beta- and alpha-chain synthesis decrease equally as the red cell matures. The beta(S)- and beta(A)-chains serve as convenient markers for globin synthesis due to the nonthalassemic and thalassemic alleles in patients with sickle beta-thalassemia. The unbalanced globin synthesis in the peripheral blood of these patients is explained by the decrease in relative synthesis of beta(S)-chain, in comparison with that of alpha-chain. This instability is not present in sickle cell trait. The beta(A)-chain synthesis was only unstable in the two patients who had the most marked anemia. The major mechanism for achieving balanced globin production in the bone marrow in the presence of one thalassemic gene appears to be increased synthesis of beta-chain due to the nonthalassemic allele. In addition, there may be a decrease of total alpha-chain synthesis in some patients.
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PMID:Synthesis of globin chains in sickle -thalassemia. 468 90

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