Cases reported "Hemoglobin SC Disease"

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1/2. Recurrent acute splenic sequestration crisis due to interacting genetic defects: hemoglobin sc disease and hereditary spherocytosis.

    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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keywords = membrane
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2/2. Epiretinal membranes in sickle cell retinopathy.

    We examined the hospital records (including fundus photographs) of 769 patients (1486 eyes) with sickle cell disease from June 1978 to July 1985 for evidence of epiretinal membranes in the macula (51 eyes) or extramacular region (four eyes) of the posterior pole. The incidence of epiretinal membranes, seen in the eyes of patients with hemoglobin SC, SS, and SB thalassemia, was 3.7%. Most epiretinal membranes were mild, and visual acuity was 20/40 or better in 78.2% of these eyes. Severe macular pucker was occasionally noted following retinal detachment surgery. One patient with SC disease developed a macular epiretinal membrane that led to a macular hole and eventually to macular and extra-macular retinal detachment. Epiretinal membranes are a relatively common cause of maculopathy in patients with sickle cell disease.
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ranking = 17319.399678664
keywords = epiretinal membrane, epiretinal, membrane
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