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

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

A study of 70 ophthalmologically asymptomatic patients with abnormal hemoglobinopathy (AS, SS, S Thal) is presented. A significant number of SS and S Thal group patients had visual acuity of less than 20/20. Retinal vein dilation and tortuosity was observed in 54% of S Thal and 83% of SS patients. Early stages of proliferative retinopathy were encountered in 7% of SS and S Thal patients in the study. The importance of routine ocular examination including meticulous binocular indirect ophthalmoscopy with scleral depression in asymptomatic patients with abnormal hemoglobin is stressed.
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PMID:Retinopathy in ophthalmologically asymptomatic patients with abnormal hemoglobins. 45 42

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

The automatic oxygenation technique of Imai et al (Biochimica Biophysica Acta, 200:189--196, 1970) was slightly modified and applied to the study of oxygen equilibrium curves of dilute, red-cell suspensions from normal subjects and individuals with hemoglobinopathies, enzymopathies, and other hematologic disorders. The p50 values of non-smoking, normal adults were 25.9 +/- 0.6 mm Hg at pH 7.4 and 37 degrees C, and corresponded to the values for whole blood reported in the literature. The oxygen equilibrium curves of suspensions from subjects with enzymopathies revealed shifts in position which are thought to be due to alterations in the concentration of 2,3-DPG of the red cells. Abnormalities in shape of the equilibrium curves were observed only for the hemoglobinopathic red cells, and could best be illustrated by the abnormally low Hill's exponent (n*). Analyses of the n* values of 34 patients with various red-cell disorders of unknown causes led to the identification of ten cases showing low values. In five of the ten patients, the presence of an abnormal hemoglobin was confirmed using column chromatography on Amberlite CG--50. These results point to the usefulness of the Hill Plot analysis of red-cell oxygen dissociation curves in functional screening for clinically important hemoglobinopathies.
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PMID:Application of an automatic oxygenation technique to analysis of oxygen equilibrium curves for hemoglobinopathic red cells and functional screening of clinically important hemoglobinopathies. 51 83

The concentration of hemoglobin in blacks was found to be 0.5 to 1.0 g/dl lower than that of income-matched whites in several large surveys. This difference could be a racial characteristic of blacks, or it might be due to a higher frequency of genetic traits such as thalassemia minor and hemoglobinopathies, or to environmental factors such as iron deficiency. To help in making this distinction, we analyzed the data from multiphasic examinations (1973 to 1975) on 1718 white, 741 black, and 315 Oriental healthy, nonindigent children between 5 and 14 years of age. In the entire population, the median hemoglobin concentration averaged 0.5 g/dl lower in blacks than in whites of both sexes (t test, P less than 0.001). The differences still averaged 0.5 g/dl (P less than 0.001) after exclusion of all those with abnormal hemoglobin by electrophoresis (Hgb S and C) and those whose mean corpuscular volume was more than 5% below the normal mean for age (to exclude iron deficiency or thalassemia minor). The data strengthen the impression that blacks normally have a concentration of hemoglobin averaging about 0.5 g/dl less than in whites. If this is the case, about 10% of normal blacks will be mistakenly designated anemic, if the same norms are applied.
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PMID:Hemoglobin concentration in white, black, and Oriental children: is there a need for separate criteria in screening for anemia? 62 13

The strategic advantages of neonatal diagnosis of sickle hemoglobinopathies depend on an accurate cord blood screening procedure. One hundred thirty-eight black children in whom a range of normal and abnormal hemoglobin genotypes was identified by agar gel and cellulose acetate hemoglobin electrophoresis at birth were retested by cellulose acetate three to five years later. The original cord blood diagnoses were verified in all 138, including all 26 with major sickle syndromes (SS, S-beta thalassemia, and SC). Cord blood hemoglobin electrophoresis using these techniques permits accurate neonatal diagnosis of major and minor sickle hemoglobinopathies.
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PMID:Accuracy of cord blood screening for sickle hemoglobinopathies. Three- to five-year follow-up. 75 62

A regional laboratory for the diagnosis and investigation of hemoglobinopathies was established by the Hamilton District Program in Laboratory Medicine in October 1970. Specimens from patients suspected of having a hemoglobinopathy were referred to the regional laboratory from all the hospitals participating in the program. Between October 1970 and October 1974, 3547 specimens were screened for an abnormal hemoglobin and thalassemia; 758 cases of thalassemia, 165 cases of abnormal hemoglobin and 14 mixed cases were diagnosed. Before 1970, 110 cases of thalassemia and 12 cases of abnormal hemoglobin were on record in the Hamilton region. Regionalization of laboratory services provides a more effective means of screening for abnormalities in hemoglobin structure and synthesis and facilitates the opportunity for improving diagnostic procedures.
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PMID:Hemoglobinopathies in the Hamilton region. I. A 4-year survey. 80 45

This article describes a rapid, simple, and inexpensive method for testing the cord blood of infants for the common hemoglobinopathies by electrophoresis using cellulose polyacetate strips. In a study of 7,500 umbilical cord blood specimens, 11% were found to contain an abnormal hemoglobin. While the importance of evaluating cord blood in a screening program for hemoglobinopathies is evident, the procedure must be accurate, verified, and followed by proper counseling.
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PMID:A test for abnormal hemoglobins in umbilical cord blood. 94 81

Hb M Akita disease is a cyanotic hemoglobinopathy found in Akita Prefecture, Japan. The abnormal hemoglobin was found to be the same as Hb M Hyde Park (beta92 His replaced by Tyr) by chemical analysis in 1967. In this disease signs of accelerated hemolysis (serum bilirubin, 2.4 mg/dl; splenomegaly, 2 finger breadths; Hb, 10.7 g/dl; reticulocyte index, 2.7) were noted, but the causes of its slight anemia were revealed to be fairly complex by ferrokinetic study, RBC life-span measurement, and 99mTc myeloscintigram. The anemia in this disease is caused not only by shortened erythrocyte survival (T 1/2 = 11.5 days by 51Cr-tagging method) and sequestration of red cells in the spleen (Spleen: liver ratio = 2.5 approximately 3.0 by 51Cr-surface counting), but also by slow supply of erythrocytes to the peripheral blood from the bone marrow, presumably, related to the existence of unstable Hb M Akita and its derivative (Hb Akita) in the erythroid cells. Both Carrell's isopropanol test and Heinz body formation test were positive. In spite of maximally increased total erythropoiesis (8 times as high as the normal level; M:E ratio = 0.22:1.0), supply of red cells from the bone marrow to the peripheral blood was significantly decreased. The distribution of hematopoietic sites throughout the body was reasonably uniform.
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PMID:Altered erythropoiesis and increased hemolysis in hemoglobin M Akita (M Hyde Park beta92 His replaced by Tyr) disease. 105 75

Acute illness characterized by fever, cough, chest pain and pulmonary infiltrates on chest film is characteristic of patients witb sickle cell anemia and with sickle-C disease. The underlying hemoglobinopathy is usually recognized in the former, but because patients with sickle-C disease as a rule have less severe anemia and fewer, less severe crises their abnormal hemoglobin may not be detected until adolescence or adulthood. Acute pulmonary illness in such patients may therefore present a diagnostic dilemma for the unwary. Two cases are presented to highlight this point. Pulmonary angiographic findings in patients with sickle cell states might add information about the pathogenesis of this disorder since vascular occlusion appears to play a major role. Pulmonary angiograms in the two patients we describe documented the presence of localized abnormalities of perfusion. In one, the presence of filling defects in medium-sized arteries suggests intravascular thromboembolism.
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PMID:Hemoglobin S-C disease presenting as acute pneumonitis with pulmonary angiographic findings in two patients. 112 91


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