1/5. Sickle cell syndromes. I. Hemoglobin SC-alpha-thalassemia.Hematologic and globin synthesis studies were performed in a black American family in which the genes for alpha-thalassemia and hemoglobins (Hb) S and C were segregating. The following distribution of these abnormalities was found: father, sickle cell trait alpha-thalassemia; mother, HbC trait alpha-thalassemia, propositus, HbSC alpha-thalassemia; older sibling, alpha-thalassemia trait; and younger sibling, hemoglobin h disease. The child with HbSC-alpha-thalassemia demonstrated more severe anemia and a more hemolytic picture than is typical of HbSC disease. Her erythrocytes exhibited decreased osmotic fragility in comparison with HbSC erythrocytes, but had an indistinguishable oxygen equilibrium curve and 2, 3-diphosphoglycerate (2, 3-DPG) level. Erythrocyte sickling in the patient, however, was significantly reduced, with less than 35% sickle forms observed at nearly complete oxygen desaturation. The sibling with hemoglobin h disease exhibited 26% Bart's (gamma4) hemoglobin at birth, a level comparable with that seen in infants with HbH disease in Far Eastern populations. At age 5 months typical findings of mild hemoglobin h disease appeared, with HbH making up 6.5% of the total hemoglobin.- - - - - - - - - - ranking = 1keywords = black (Clic here for more details about this article) |
2/5. Severe proliferative retinopathy as the only sign of sickle cell hemoglobin c disease.A 48-year-old black woman developed severe bilateral hypoxic proliferative retinopathy without other clinical manifestations. The hemoglobin level was 10.6 to 11.5 g/100 ml, reticulocyte level was 2.2%, targeted and sickled red blood cells were seen on blood smears, and hemoglobins S and C were demonstrated by electrophoresis. glucose tolerance test was normal. The development of neovascular proliferation, vitreous hemorrhage, and retinal detachment unassociated with other clinical symptoms is unusual in sickle cell hemoglobin C disease.- - - - - - - - - - ranking = 1keywords = black (Clic here for more details about this article) |
3/5. Acute renal failure in a patient with essential thrombocythemia, diabetes mellitus, and heterozygous hemoglobin c disease.A 31-year-old black diabetic man had acute oliguric renal failure. Retrograde pyelography showed filling defects in the ureters, presumably blood clots. Essential thrombocythemia was subsequently diagnosed. We believe no such presentation of essential thrombocythemia has been previously described in the English literature.- - - - - - - - - - ranking = 1keywords = black (Clic here for more details about this article) |
4/5. Vasoocclusion with homozygous hemoglobin-C disease.Hemoglobin-CC is a relatively uncommon hemoglobinopathy, seen primarily in the black population. These patients usually have a mild clinical course, without significant risk of vasoocclusive crises. There are no routine recommendations for preparation prior to surgery. We present a patient who developed a clinical picture suggestive of major vasoocclusion after cardiac by-pass surgery. In retrospect, these signs appear to be the result of hemodynamic instability and cardiogenic shock instead of vasoocclusion.- - - - - - - - - - ranking = 1keywords = black (Clic here for more details about this article) |
5/5. optic disk neovascularization in hemoglobin sc disease.A 37-year-old black man had a clinically documented case of optic disk neovascularization associated with hemoglobin sc disease. Through medical evaluation, we ruled out other disorders associated with proliferative retinopathy. Extensive areas of retinal nonperfusion were associated with vasoproliferative retinopathy at the junction of the perfused and nonperfused retina; and a delicate network of neovascularization extended from the optic disk into the vitreous gel in one eye.- - - - - - - - - - ranking = 1keywords = black (Clic here for more details about this article) |