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

Using a cation-exchange chromatographic method, we found normal or subnormal values for glycosylated hemoglobin in a few diabetic patients with persistent hyperglycemia. Subsequent investigations revealed that these unexpected results had originated from black patients with diabetes. In view of common occurrence of abnormal hemoglobins in the Negro population, we subjected blood preparations to electrophoresis on cellulose acetate and acrylamide gel. The results have shown the presence of hemoglobin S or hemoglobin C in each patient. When allowance was made for the percentage of the abnormal hemoglobin, the "corrected values" of glycosylated hemoglobin increased to the diabetic range. Furthermore, the corrected values agreed well with the "expected values" calculated from a regression line correlating fasting blood glucose concentrations and proportions of glycosylated hemoglobin in more than 300 diabetics with no evidence of hemoglobinopathy. We conclude that in diabetic patients presenting with hemoglobin S or hemoglobin C, there is a considerable decrease in the values for glycosylated hemoglobin as measured by cation-exchange chromatographic methods, and that this decrease is proportional to the percentage of the abnormal hemoglobin.
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PMID:Low proportions of glycosylated hemoglobin associated with hemoglobin S and hemoglobin C. 45 90

Anastomoses between vessels of the fundus may occur as congenital malformations or secondary to vascular diseases affecting the eye. Congenital anastomoses can be of the racemose hemangioma type, with severe malformation of the retinal vessels, ocular complications, and neurologic manifestations, or as simple A-V shunts with visual impairment but limited tendency to show other ocular or neurologic involvement. These anastomoses must be distinguished from other vascular malformations like telangiectasis (Leber, Coats) or the angiomatous lesions of von Hippel's disease. Secondary anastomoses may be confined to the retinal vessels or involve chorioretinal connections. Retinal anastomoses occur in vascular disorders like retinal vein occlusions, diabetes, periphlebitis and hemoglobinopathies. They are often amenable to treatment by light coagulation. Chorioretinal anastomoses occur whenever Bruch's membrane is destroyed by traumatic, inflammatory, degenerative or physical (light coagulation) influences. Light coagulation may be the appropriate treatment, although complications are not rare.
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PMID:[Vascular anastomoses at the posterior pole of the eye (author's transl)]. 54 20

The efficacy of correlating the L/S ratio in the amniotic fluid with fetal lung maturity has been substantiated in normal pregnancies. In gestations complicated by fetomaternal diseases, however, the assay is less reliable. This study involves 555 pregnancies in which there was a significant maternal, fetal, or placental disorder. The L/S ratio was related to fetal respiratory maturity as measured by Dubowitz criteria and the occurrence of RDS. The results show that pre-eclampsia, chronic hypertension, diabetes (Class D, E, F), significant cardiovascular disease, severe hemoglobinopathies, various congenital anomalies, chronic placental insufficiency, and prolonged ruptured membranes accelerated the L/S ration. Conversely, mild diabetes (Class B, C), intrinsic renal disease, hepatitis, collagen disease, hydrops fetalis, syphilis, and toxoplasmosis were associated with a delay in the L/S ratio. A significant increase in erroneous responses was noted in these patients when the L/S ratio was correlated to infant maturity and to the incidence of RDS. Possible mechanisms for these findings are discussed.
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PMID:The lecithin/sphingomyelin ratio in cases associated with fetomaternal disease. 57 73

Sickle cell retinopathy, in all of its manifestations, represents the effects of arteriolar and capillary occlusions. Increased viscosity of circulating whole blood plus the microembolic action of individual sickled erythrocytes contribute to vasoocclusion. Decreased oxygenation and increased acidosis develop and lead to further sickling -- and further vaso-occlusion. The cycle of erythrostasis that characterizes sickling throughout the body is also applicable to the retina. The transparent media of the eye permit direct visualization of vaso-occlusions which occur preferentially in and about the macula and in the far periphery of the retina. Many of the occlusive episodes are transient. There dynamic events are simultaneously occurring elsewhere in the body but can only be visualized in the eye. The net effect in the retina is a remodeling of its vasculature, as some vessels close and others reopen. After the onset of arteriolar closure in the retina, affected blood vessels embark on a spontaneous, naturally evolving course of events leading to arteriolarvenular anastomoses, neovascular proliferations, vitreous hemorrhages, and retinal detachment. The advanced stages of proliferative sickle retinopathy are most commonly observed in SC disease and in Sthal, possibly because these two forms of sickling have significantly higher than normal whole blood viscosity. Retinal vaso-occlusions can also lead to blow-out hemorrhages which may evolve into salmon patches, iridescent spots, schisis cavities, and black sunbursts. In some respects sickle retinopathy is unique, but many of its manifestations are similar to those of retinopathies found in diabetes mellitus, AC hemoglobinopathy, Takayasu pulseless disease, sarcoidosis, chronic myelogenous leukemia, branch retinal vein occlusion, retrolental fibroplasia, and Eales disease.
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PMID:Retinal vaso-occlusion in sickling hemoglobinopathies. 78 1

Seven patients had sickle cell trait (hemoglobin AS) and vasoproliferative retinopathy. The retinal abnormalities in these seven patients were indistinguishable from those seen in patients with clinically significant sickling hemoglobinopathies (sickle cell-hemoglobin C disease, hemoglobin S-thalassemia disease, and sickle cell anemia). All seven patients also had some evidence of associated systemic disease such as diabetes, syphilis, tuberculosis, or sarcoidosis. In the presence of an associated systemic disease, marked retinopathy can occur in the ordinarily benign condition of sickle cell trait.
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PMID:Proliferative retinopathy in sickle cell trait. Report of seven cases. 84 50

Macroscopic and light microscopic features of regional ischemic infarcts of retina in autopsy eyes are described. Lesions were found throughout life span, most patients having significant primary or secondary vascular disease (younger had systemic hypertension, rheumatic heart disease, vasculitis or sickle hemoglobinopathy; most older patients had arteriosclerosis). Diabetes mellitus and infarction of other organs (including brain) also were common. Topographically almost all lesions were found in posterior fundus; most were temporal and involved anatomical macula. Microscopically there was destruction of inner retinal layers with preservation of outermost cells of inner nuclear layer; occasionally ganglion cell layer was relatively spared.
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PMID:Regional ischemic infarcts of the retina. 108 10

This prospective study demonstrated that among 92 consecutive patients who underwent cholecystectomy for gallstones at an urban university hospital, 27% had pigment stones and 73% had cholesterol stones. Age, sex, and weight, but not race, were significant determinants of stone type. The mean hemoglobin, direct and total serum bilirubin, and fasting glucose concentrations were similar for each group. The presence of alcoholism, diabetes, thyroid disease, or heterozygous hemoglobinopathy did not influence stone type. The average patient with pigment stones is a lean man or woman 63 years old; in contrast the composite patient with cholesterol stones is a modestly overweight woman 43 years old.
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PMID:Pigment vs cholesterol cholelithiasis: clinical and epidemiological aspects. 115 13

To evaluate recent management of pregnancy in women with sickle cell hemoglobinopathy, pregnancy outcomes of 29 women with homozygous (HbSS) disease, 52 with double heterozygous (HbSC) disease, and 51 normal (HbAA) women were assembled. The case series was 132 singleton births to 132 Ghanaian women, 81 of whom were from the Korle-bu Teaching Hospital, Accra, from June 1988 to October 1991. Controls had no history of hypertension, diabetes, rhesus isoimmunization, or pre-eclampsia, and their infants with significantly lower birth weight (mean 2.59 kg), at lower gestational age (35.2 weeks) than controls. Doubly heterozygous sickle cell mothers had infants with a shorter gestational age (36.4 weeks) than controls (37.25 weeks), yet averaging the same birthweight as controls (3.10 kg). The placental weights were not significantly different between the 3 groups. The results were interpreted to suggest that children of HbSC mothers were large for gestational age (LGA). Continuous sickling of the mother's red blood cells is thought to be the cause of poor outcomes in homozygous sickle cell pregnancy.
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PMID:Comparative studies of live neonates in maternal sickle cell haemoglobinopathy in Ghana. 129 39

GH and FA are useful monitors in the care of diabetic patients. For most situations, GH is the preferred test and should be routinely monitored. FA should be reserved for exceptional situations in which blood glucose control over one to two weeks must be assessed or in patients with a hemoglobinopathy. Patients with diabetes should be advised of their present GH level and the preferred goal.
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PMID:The why and wherefore of fructosamine. 142 70

During 15 months all the patients with retinal or vitreous hemorrhages diagnosed in departments of ophthalmology or internal medicine in Bamako (Mali) were submitted to an aetiological assessment. Only patients with hemorrhages caused by a general aetiology were included in the study. 64 cases were selected according to these criteria. Hemoglobinopathies were involved in 14.1% of cases, high blood pressure in 31.8%, diabetes mellitus in 10.9% and miscellaneous causes in 15.6%. In 26.6% of cases an association between several of these aetiologies was observed. SC hemoglobin was the most frequent and the most serious. AS and AC traits were involved in 2 retinal hemorrhages' cases. AS and AC traits' responsibility in ocular hemorrhages associated with diabetes mellitus or high blood pressure was doubtful. A frequent association of sickle cell trait and high blood pressure was noticed. One case of Eales syndrome is reported during a diabetes mellitus-AS trait. All the patients were submitted to a treatment by pentoxifylline. Moreover 5 patients were treated by a laser coagulation and 2 patients by cryoapplication. The interest of the hemoglobin electrophoresis for the aetiologic assessment of retinal and vitreous hemorrhages is stressed.
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PMID:[Retino-vitreous hemorrhage in hemoglobinopathies]. 177 9


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