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

Three patients with hemoglobin S-C disease, all with ocular lesions, were studied and contrasted with four other patients who had predominantly either hemoglobin S or C but no ocular lesions. Attention is drawn to the diagnostic value of hemoglobin electrophoresis in such cases. With this technique a diagnosis of hemoglobin S-C disease was made in a patient previously thought to the "Eales' disease"; one sister was found to have asymptomatic hemoglobin S-C disease and unsuspected early ocular lesions. The number of persons in Canada with hemoglobinopathies is increasing. Awareness of an association between abnormal hemoglobins and ocular disease may lead to the recognition of an unsuspected blood disorder or of an unsuspected retinopathy.
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PMID:Ocular manifestations of hemoglobin S-C disease. 428 81

The present study is a two year-follow up of 105 eyes (including 27 aphakic eyes), operated on retinal detachment by silicone oil injection after pars plana vitrectomy. This procedure was chosen either as an initial treatment (37 eyes) or after a classical treatment by external indentation had failed (68 eyes). All cases of retinal detachment were of bad prognosis: macular hole, massive periretinal proliferation, isolated or associated with a tear. Cases of vitrectomy with silicone injection for proliferative retinopathy due to diabetes or hemoglobinopathy were excluded. Operations were performed under a surgical microscope with the help of a corneal contact lens (Goldmann, Kl oti or O' Malley ). Functional and anatomical results, as well as complications, were evaluated at least 2 years after treatment. In 24,7% of cases, vision was improved as compared to preoperative visual acuity. Cataract was a constant complication in all phakic eyes, as silicone oil had not been removed within the first 6 months. Intraocular hypertension developed frequently both in phakic and in aphakic eyes (29,5 and 33% of cases, respectively) and responded poorly to medical or surgical treatment. Other complications occurred less frequently. They were corneal edema, conjunctival hyperemia and uveitis. Pain imposed the evisceration of 2 eyes. These complications were the consequence of silicone oil toxicity and/or the mechanical effects of intraocular oil. Besides treatment-associated complications, early (36 during the first 6 months) as well as late (2 between the 12th and 18th months) recurrences of retinal detachment were observed. In contrast to these fair functional results, anatomical results were good in most cases.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Treatment of retinal detachment by vitrectomy and injection of silicone oil. Long-term results and complications in 105 cases]. 647 Apr 12

The records of 68 patients with hemoglobin SC disease and 68 age- and sex-matched control patients were reviewed for neurological problems. A significant increase in retinopathy, stupor/coma, and seizures was noted in the hemoglobin SC group. Hemiplegia, noted in two young patients, was probably also secondary to hemoglobin SC disease. Hemoglobin SC disease may often go unrecognized as a cause of stupor and coma in older patients without other obvious manifestations of a sickling hemoglobinopathy. Factors known to precipitate sickling crisis and the associated neurological complications should be avoided, especially in patients undergoing surgery or parturition.
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PMID:Neurological complications of hemoglobin SC disease. 669 47

The hemoglobin of 70 diabetics with retinopathy was analysed. 56 patients had pathologically elevated values, 12 values were within the upper normal limit and in 2 cases the findings were normal. This hemoglobin variant is characterized by an increased affinity of oxygen. Clinically and pathologically speaking the elevated HbA1c value could be a causal factor in diabetic retinopathy. Comparisons with sickle cell anemia and thalassemia seem to indicate that hemoglobinopathy and retinopathy are pathogenetically related.
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PMID:[Significance of elevated hemoglobulin A1c for the pathogenesis of diabetic retinopathy]. 686 53

Angioid streaks were observed in two patients with abetalipoproteinemia. The progression of the angioid streaks was minimal over the years that these patients received vitamin A and E supplementation, though in one patient the development of subretinal neovascular membranes within the angioid streaks was the cause of rapid central visual loss. The simultaneous appearance of two rare entities in unrelated individuals strengthens the relationship between these two disorders that has been suggested by previous case studies. The authors propose a common metabolic pathway involving trace element deficiencies that may account for this relationship as well as the association of angioid streaks with other rare disorders such as Paget's disease, hypoparathyroidism, lead poisoning, hyperphosphatemia, and a number of hemoglobinopathies. Their study of these two patients underscores the need for further investigations as to the role of copper, zinc and omega-3 fatty acids in the pathogenesis of retinopathy in abetalipoproteinemia.
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PMID:Angioid streaks associated with abetalipoproteinemia. 774 70

Cerebral infarction before the age of 45 years accounts for 4-6% of all strokes. The etiology remains unexplained in a significant proportion of patients even after extensive investigations. The reported risk factors of this age group are cardiopathies, hypertension, smoking, hypercholesterolemia, reduction of anticoagulant proteins, hypercoagulable states, antiphospholipid antibodies primary syndrome, antiphospholipid antibodies secondary syndrome, some hemoglobinopathies, hyperviscosity syndromes, vasculitis, collagen vascular diseases, fibromuscular dysplasia, arterial dissections, migraine, myopathy encephalopathy lactic acidosis stroke like episodes, homocystinuria, familial amyloid angiopathy, microangiopathy with retinopathy encephalopathy and deafness, systemic lupus erythematosus, use of cocaine, traumas or manipulations of neck, AIDS. From 1/1/94 to 04/30/95 we observed 19 patients with cerebral infarctions and 9 patients with transitory ischemic attacks in young people. The aim of our study was to apply a diagnostic protocol by sequential tests of first level and second level. According to this protocol we found that the more common risk factors were ischemic cardiopathy, hypertension, smoking and hypercholesterolemia. Moreover we observed other independent risk factors, although less frequent, like the antiphospholipid antibodies, neurolupus, AIDS, deficit of protein S.
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PMID:[The application of a new diagnostic protocol for stroke in the young]. 876 46

Hemoglobin S/O(Arab) (Hb S/O(Arab)) is a rare compound heterozygous hemoglobinopathy characterized by the presence of two variant beta-globin chains: beta6Glu --> Val (Hb S) and beta121Glu --> Lys (Hb O(Arab)). The diagnosis of Hb S/O(Arab) requires electrophoresis on both cellulose acetate and citrate agar, since Hb O(Arab) co-migrates with Hb C at alkaline pH and close to Hb S at acidic pH. To date only case reports and small series of patients with Hb S/O(Arab) have been described. To better characterize the clinical and laboratory aspects of this unusual disorder, we reviewed the Duke University Medical Center experience. We identified 13 African-American children and adults with Hb S/O(Arab) ranging in age from 2.7 to 62.5 years. All patients had hemolytic anemia with a median Hb of 8.7 gm/dL (range 6.1-9.9 gm/dL), and a median reticulocyte count of 5.8% (range 1.2-10.3%). The peripheral blood smear typically showed sickled erythrocytes, target cells, polychromasia, and nucleated red blood cells. All 13 patients have had significant clinical sickling events including acute chest syndrome (11), recurrent vasoocclusive painful events (10), dactylitis (7), gallstones (5), nephropathy (4), aplastic crises (2), avascular necrosis (2), leg ulcers (2), cerebrovascular accident (CVA) (1), osteomyelitis (1), and retinopathy (1). Four patients have died, including two from pneumococcal sepsis/meningitis at ages 5 and 10 years, one of acute chest syndrome at age 14 years, and one of multiorgan failure at age 35 years. We conclude that Hb S/O(Arab) disease is a severe sickling hemoglobinopathy with laboratory and clinical manifestations similar to those of homozygous sickle cell anemia.
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PMID:Hemoglobin S/O(Arab): thirteen new cases and review of the literature. 1020 1

Hemoglobinopathies especially sickle cell disease causes neovascularization in the retina and lead to hemorrhage. To gain insight into the features and incidence of this retinopathy, a study was carried out in Lome, Togo, in 32 subjects (mean age: 31.1 years) presenting hemoglobinopathy. There were 25 patients with SC disease, 3 with SS, 2 with AC, and 2 with A2F. All were examined by the same ophthalmologist and underwent fluorescein angiography. Retinopathy was observed in 22 of the 32 patients including 21 of the 25 patients (84%) with SC and one patient with AC who presented macular hemorrhage. The main findings in patients with SC were formation of new blood vessels in the peripheral retina characteristic of proliferating retinopathy in 11 cases, black sun spots characteristic of non-proliferating retinopathy in 3 cases, and evidence of vitreous hemorrhage in 2 cases. These findings confirm the high incidence and seriousness of retinal complications in patients with SC disease. Prevention is necessary and requires systematic screening to allow early detection of complications which can be treated by laser photocoagulation.
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PMID:[Retinal complications in hemoglobinopathies: report of 32 cases]. 1090 82

Sickle cell disease is the most common and severe hemoglobinopathy. Ocular complications are related to ischemic retinopathy. Retinal examination has to be done in homozygous or double heterozygous patients and when the sickle trait is present with additional systemic vascular conditions. Fluorescein angiography is the main investigation. Photocoagulation to ischemic areas is effective in achieving regression of neovascularization. Various measures to reduce ischemia are recommended for surgical procedure. Multidisciplinary teams should take on severe cases.
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PMID:[Retinal involvement in hemoglobinopathy]. 1191 46

Sickle cell disease (SCD) is one of the most common inherited diseases in the world and the patients present notorious clinical heterogeneity. It is known that patients with SCD present activation of the blood coagulation and fibrinolytic systems, especially during vaso-occlusive crises, but also during the steady state of the disease. We determined if the presence of the factor V gene G1691A mutation (factor V Leiden), the prothrombin gene G20210A variant, and methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism may be risk factors for vascular complications in individuals with SCD. We studied 53 patients with SCD (60% being women), 29 with SS (sickle cell anemia; 28 years, range: 13-52 years) and 24 with SC (sickle-hemoglobin C disease; 38.5 years, range: 17-72 years) hemoglobinopathy. Factor V Leiden, MTHFR C677T polymorphism, and prothrombin G20210A variant were identified by PCR followed by further digestion of the PCR product with specific endonucleases. The following vascular complications were recorded: stroke, retinopathy, acute thoracic syndrome, and X-ray-documented avascular necrosis. Only one patient was heterozygous for factor V Leiden (1.8%) and there was no prothrombin G20210A variant. MTHFR 677TT polymorphism was detected in 1 patient (1.8%) and the heterozygous form 677TC was observed in 18 patients (34%, 9 with SS and 9 with SC disease), a prevalence similar to that reported by others. No association was detected between the presence of the MTHFR 677T allele and other genetic modulation factors, such as alpha-thalassemia, beta-globin gene haplotype and fetal hemoglobin. The presence of the MTHFR 677T allele was associated with the occurrence of vascular complications in SCD, although this association was not significant when each complication was considered separately. In conclusion, MTHFR C677T polymorphism might be a risk factor for vascular complications in SCD.
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PMID:The clinical impact of MTHFR polymorphism on the vascular complications of sickle cell disease. 1690 20


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