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)

A nearly 72-old black male with sickle cell anemia suffered from heart failure, hypertension, chronic impaired kidney function with hyperuricemia and gout. Anoxemia due to refractory anemia of the sideroachrestic type most probably precipitated the sudden heart failure.
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PMID:Long survival in sickle cell anemia. 113 54

A 64-year-old man was found to have a hemolytic anemia with a hematocrit of 0.28 (28%) during a routine evaluation. One month before this his hematocrit had been normal. Further studies revealed a myelodysplastic syndrome and acquired hemoglobin H disease. Eighteen months later this transformed into acute megakaryoblastic leukemia with disappearance of hemoglobin H, and shortly thereafter he had myelofibrosis develop. Acquired hemoglobin H disease, which is an alpha-thalassemia-like syndrome, results in the formation of an unstable hemoglobin composed of beta chain tetramers. This condition has been associated with preleukemia, sickle cell anemia, and hematologic malignancies. Although idiopathic myelofibrosis also has been described as a setting in which this thalassemic syndrome occurs, the present case is unusual in that the myelofibrosis was preceded by refractory anemia with leukemic transformation.
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PMID:Myelodysplastic syndrome with acquired hemoglobin H disease. Evolution through megakaryoblastic transformation into myelofibrosis. 327 51

Immunologic studies were performed on mononuclear cells from ten chronically transfused children with sickle cell disease, and the results were compared with those from five other groups: 21 sickle cell patients who were not receiving regular transfusions, 6 chronically transfused children with other forms of refractory anemia, 10 previously splenectomized children, 5 boys with hemophilia A, and 27 normal adult controls. The helper:suppressor T cell ratios (T4:T8) in all groups except hemophiliacs were normal, were unrelated to the number of units transfused, and were not suggestive of findings reported for patients with the acquired immune deficiency syndrome (AIDS) or groups at risk for the syndrome. Percentages of T3, T4, and T8 cells were low in sickle cell and splenectomized patients, but not in chronically transfused patients with other anemias. Serum IgG was frequently elevated, and IgG synthesis in vitro was increased relative to IgM synthesis in sickle cell patients. Coculture experiments indicated that such findings may stem from a selective increase in IgG synthesis by B cells. Thus, transfused sickle cell patients have a particular pattern of immunologic abnormalities that is distinct from that seen in AIDS.
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PMID:Lymphocyte phenotype and function in chronically transfused children with sickle cell disease. 402 20

The suppressive effect of two types of human interferon (fibroblast and leukocyte types) on bone marrow and peripheral blood erythroid colony formation by cells from patients with various disorders of erythropoiesis was studied. Bone marrow or peripheral blood mononuclear cells were isolated and cultured in plasma clots with Epo, and benzidine-positive erythroid colonies counted after 7 to 14 days' incubation. Specimens included cells from patients with thalassemia, sickle cell anemia, secondary polycythemia, nutritional anemia, hemolytic anemia, refractory anemia, and normal controls. Results show that with the exception of nutritional anemia cells, erythroid colony formation by all specimens was significantly inhibited (84% to 100%) by 100 to 200 U of either interferon type per milliliter. Erythroid colony formation by nutritional anemia bone marrow cells ws inhibited only 30% to 40% by 200 U/ml fibroblast or leukocyte interferon, and 100 U/ml were ineffective. Sickle cell peripheral blood mononuclear cells and refractory anemia bone marrow demonstrated marked inhibition of colony formation (86% to 97%) with 50 U/ml fibroblast or leukocyte interferon. Inhibition of colony formation by sickle cell peripheral blood mononuclear cells was completely abolished by addition of anti-interferon. Colony formation by refractory anemia bone marrow was inhibited 46% to 51% by as little as 10 U/ml fibroblast or leukocyte interferon. This concentration of interferon was ineffective with cells from thalassemia, secondary polycythemia, nutritional anemia, hemolytic anemia, and controls. Mouse bone marrow colony formation was not suppressed by 200 U/ml leukocyte interferon. These results demonstrate that fibroblast or leukocyte interferons inhibit in vitro erythroid colony formation by human bone marrow or peripheral blood mononuclear cells, the effect is abolished by anti-interferon, and inhibition may be species-specific. These studies reveal that cells obtained from certan patients are particularly sensitive to the cytoxic effects of interferon, and it may be useful to monitor the erythropoietic state of the patient during interferon chemotherapy.
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PMID:Suppressive effect of human interferons on erythroid colony growth in disorders of erythropoiesis. 615 73