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Query: UMLS:C0019045 (hemoglobinopathies)
 2,704 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A variety of renal structural and functional abnormalities have been associated with sickle cell disease. To define the relationship between the hemoglobinopathy and glomerular disease, clinicopathologic correlations, renal morphologic, ultrastructural immunohistologic and functional studies were performed on seven patients with clinical and laboratory evidence of glomerular disease. In addition, immunologic studies including isolation and characterization of cryoprecipitable immune complexes, and determination of immunoglobulin, total complement and complement component levels, and antibody titers to several antigens were performed in an attempt to define the etiologic and pathogenic mechanisms of the renal disease and its relationship to sickle cell anemia. Proteinuria was presnet in all patients. The nephrotic syndrome, hypertension, hematuria and renal insufficiency were found in more than one half the patients. All patients had membranoproliferative glomerulonephritis of varying degree; glomerular basement membrane splitting, electron dense deposits in the glomerulus; interstitial fibrosis, tubular atrophy and hemosiderin deposits were frequent. Immunoglobulin complement components (classif complement pathway) and renal tubular epithelial antigen were distributed in a granular pattern along the glomerular basement membranes of all patients studied by these methods. Cyroprecipitable complexes of renal tubular epithelial antigen-antibody to renal tubular epithelial antigen as well as antibody to renal epithelial antigen were detected in the circulation of some patients. There was no serologic evidence of activation of the alternate complement pathway. These studies demonstrated an immune deposit normocomplementemic nephritis associated with sickle cell anemia; they further support our hypothesis that the relationship is more then coincidental, and is mediated by glomerular deposition of immune complexes of renal tubular epithelial antigen-antibody to renal tubular epithelial antigen, the antigen possibly released after tubular damage secondary to oxygenation and hemodynamic alterations related to sickle cell disease.
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PMID:Nephropathy associated with sickle cell anemia: an autologous immune complex nephritis. II. Clinicopathologic study of seven patients. 12 92

Two cases have been presented: one shows complications when a latent form of sickle cell disease was manifested after orthognathic surgery; the other illustrates a protocol for management of patients with abnormal hemoglobins who are candidates for orthognathic surgery. The protocol includes an initial screening test for all black patients who are hospitalized for elective orthognathic surgery. When the screening test is positive, afollow-up hemoglobin electrophoresis is obtained to identify the specific hemoglobinopathy. Transfusions, when indicated, are given to alter the percentages so that the patient has no greater than 40% abnormal hemoglobin. Precautions are taken during anesthesia and after surgery to ensure that the patient is well oxygenated and is not in a hypothermic state. Serial electrophoreses are performed and transfusions, if indicated, are given during the postoperative and healing phases according to the postoperative status.
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PMID:Sickle cell hemoglobinopathies: a protocol for management. 28 37

Tentative conclusions concerning the role of recognition and ingestion of microorganisms by phagocytes in host defense and the consequences of disorders of phagocytosis can be derived by correlating a) knowledge about recognition and ingestion derived from studies in vitro, b) investigations of the clearance of particulate matter from the circulation of animals and man, and c) analyses of the behavior of phagocytes in patients susceptible to recurrent pyogenic infections. Deficiency of the major serum recognition-conferring (immunoglobulins and complement proteins that deposit a fragment of C3 on microbes) prevents the optimal clearance of virulent encapsulated pathogens by fixed mononuclear phagocytes. Confrontation of phagocytes with particulate matter appearing in pathologic states (viruses, immune complexes, damaged erythrocytes in sickle cell anemia and other hemoglobinopathies) diverts them from their normal task of clearing opsonized encapsulated microorganisms. Corticosteroids impair the phagocytic capacity by an unknown mechanism. Major impediments to progress in this field are inadequate assays for phagocytosis and the difficulty in measuring phagocytosis in the intact organism.
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PMID:Phagocytosis. Clinical disorders of recognition and ingestion. 32 84

Sickle cell disease presents an unusual challenge to the reconstructive surgeon. The interaction between the underlying hemoglobinopathy and the circulatory mechanics in pedicled flaps leads to a high incidence of flap necrosis in patients with this disease. We present 3 patients with sickle cell disease in whom the use of axial flaps allowed the repair of difficult reconstructive problems in one stage, without preoperative exchange transfusions. The rationale for this approach is discussed.
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PMID:Successful use of muscle flaps or myocutaneous flaps in patients with sickle cell disease. 33 34

A 34 year old woman with sickle cell (SS) anemia and chronic renal failure of unknown etiology was maintained on dialysis for 11 months before she received a cadaveric renal transplant. After 24 months, transplant function is excellent although a mild urinary concentrating defect (Umax = 532 mOsm/liter) is present. Renal biopsies five and 11 months after transplant revealed mild focal interstitial infiltrates and mesangial thickening. A major complication has been the reemergence of numerous severe painful crises, inferred to be caused by an increased blood viscosity consequent to a rising hematocrit value, after a hiatus of many years. The succession of crises was stopped with a prophylactic partial exchange transfusion program, reemerged when the program was discontinued, and was stopped again when the transfusion program was reinstituted. We conclude that renal transplantation may be successfully performed in patients with sickle cell disease. Complications of the hemoglobinopathy may develop, but painful crises can be successfully managed with judicious transfusion therapy.
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PMID:Painful crises following renal transplantation in sickle cell anemia. 34 34

Center vertebral end-plate depression was originally reported to be pathognomonic for sickle cell disease. Two patients without hemoglobinopathy were found to have this deformity. One patient has congenital hereditary spherocytosis; the other has no blood dyscrasia but is osteopenic. Therefore, although this deformity is usually due to sickle cell disease, it is not pathognomonic.
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PMID:Vertebral end-plate depression: report of two patients without hemoglobinopathy. 40 87

Serial microscopic immunodiffusion assays of F cells, i.e., erythrocytes that contain fetal hemoglobin (HbF), in four individuals recovering from anemia demonstrate initial increases in the percentage of circulating reticulocytes that contain HbF (F reticulocytes) and subsequent increases in the percentage of mature erythrocytes that contain HbF (F erythrocytes). In one individual responding to therapy for iron-deficiency anemia, the average percentage of F reticulocytes increased from 4.8+/-1.1 to 16.0+/-2.8% (mean+/-SD), while the mean level of F erythrocytes increased from 3.5+/-0.7 to 7.2+/-0.6%. Two normal children with transient erythroblastopenia exhibited F reticulocyte percentages of 71.3+/-6.7 and 41.5+/-1.5%, respectively, when erythropoiesis resumed. With recovery these values fell to finally measured values of 33.7+/-4.7 and 12.6+/-1.1%, respectively. In an adolescent with sickle cell anemia, F-reticulocyte percentages fluctuated between 0.6+/-1.1 and 34.0+/-2.8% and paralleled the rise and fall of total reticulocytes associated with therapy for a nasopharyngeal carcinoma. Such findings suggest that first, the production of F cells and non-F cells are separately regulated. Second, F-cell production is preferentially stimulated during escape from erythropoietic suppression and selectively depressed at the start of suppression. Third, during escape from erythropoietic suppression, F-cell production in vivo resembles that reported for in vitro cultures of erythroid stem cells. Fourth, individuals with sickle cell anemia, like individuals without hemoglobinopathies, can change their relative level of F-cell production.
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PMID:Production of erythrocytes that contain fetal hemoglobin in anemia. Transient in vivo changes. 42 49

Functional asplenia develops in children with sickle cell anemia. This asplenia is related to the increased incidence of bacterial sepsis that has been documented in these patients. With the use of direct-interference contrast microscopy to quantitate splenic function, we studied children with the sickle hemoglobinopathies. A gradual increase in splenic dysfunction with increasing age was documented in children with homozygous sickle cell disease. Children with the sickle variants also seem to manifest degrees of splenic dysfunction. Direct-interference contrast microscopy is a simple quantitative technique for the evaluation of splenic function in children with the sickle hemoglobinopathies.
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PMID:RBC surface pits in the sickle hemoglobinopathies. 43 77

Sickle cell (Hb SS) anemia is considered a normochromic-normocytic hemolytic disorder. In 53 patients with Hb SS (mean reticulocyte values 16.8%), the authors observed that mean corpuscular hemoglobin (MCH) was 29.8 +/- 2.4 mu microgram and mean corpuscular hemoglobin (MCV) was 88.1 +/- 6.8 cu micrometers. In contrast, patients in a comparable hemolytic-disease group unrelated to hemoglobinopathies (mean reticulocyte count = 15.7%) had a higher MCH (33.0 +/- 1.8 mu microgram) and larger MCV (97 +/- 5.3 cu micrometers). These data indicate that Hb SS disease is associated with "relative microcytosis," presumably a consequence of reduced hemoglobin production.
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PMID:Microcytosis associated with sickle cell anemia. 45 12

Seventy-five black patients with sickle hemoglobinopathies who are followed by the Colorado Sickle Cell Treatment and Research Center, and 172 of their family members were evaluated by retrospective interview for the occurrence of sickling crises when traveling in the Rocky Mountains or by aircraft. Twenty per cent of 39 patients with sickle cell anemia (Hgb SS) (Hgbs S/C and S/T) have developed crises when traveling in the mountains above 2000m. Vaso-occlusive crises predominated in the SS group and splenic crises occurred primarily in those with Hgbs S/C and S/T. Approximately 20 per cent of those with S/C and S/T, but none with SS, had crises when flying in pressurized aircraft. Among 103 family members with sickle cell trait (Hgb AS), no significant risk of developing crises could be identified with either mountain or pressurized aircraft travel.
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PMID:Sickling crises and altitude. Occurrence in the Colorado patient population. 45 76


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