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

The content of glycated hemoglobin (Hb A1c) evaluated by high pressure chromatography on a VARIANT analyzer using Hb A1c software correlated with the mean daily blood glucose level in the majority of diabetics with types 1 and 2 disease and helped evaluate the compensation of diabetes mellitus during the latest 2-3 months of observation. Low Hb A1c values in combination with an extra hemoglobin fraction, unidentified by the software we used, were detected in 3 Russian women suffering from type 2 diabetes mellitus, with high blood glucose levels. Application of Hemoglobinopathy software showed an abnormal spectrum of hemoglobin fractions in the blood of all 3 patients: appearance of hemoglobin D paralleled by decrease of Hb A0. The presence of abnormal hemoglobin D in these patients was confirmed by the results of electrophoresis on cellulose acetate films and a negative test for sickle erythrocytes. Abnormal hemoglobins are responsible for discoordination between glucose content and Hb A1c in the blood of diabetics. Measurement of serum fructosamine is recommended for evaluation of diabetes compensation in patients with hemoglobinopathies.
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PMID:[Limits of chromatographic determination of glycated hemoglobin (Hb A1c) in diabetes mellitus in presence of abnormal hemoglobins]. 1153 May 31

Red blood cells (RBC) have unique flow-affecting properties--namely, aggregability, deformability and adherence to endothelial cells (EC)--which play major roles in blood flow. Under normal flow-induced shear stress RBC are dispersed, their adherence to EC is insignificant, and they are sufficiently deformable to enable tissue perfusion. However, in pathological conditions that are associated with low-flow states (e.g., trauma, ischemia), elevated plasma components (mainly fibrinogen), or altered RBC properties (e.g., hemoglobinopathies, oxidative stress, inflammation, diabetes), RBC flow properties are altered and present a circulatory risk.
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PMID:The red blood cell in vascular occlusion. 1367 54

The major form of glycohemoglobin is hemoglobin A1c (HbA1c). The HbA1c fraction is abnormally elevated in chronic hyperglycemic diabetic patients and correlates positively with glycemic control. Previous studies suggest that iron deficiency anemia (IDA) affects the levels of HbA1c. The aim of this study was to determine the effect of IDA on HbA1c levels in nondiabetic patients. The population studied consisted of 50 patients (30 women, 20 men, mean age 35.7 +/- 11.9 years) with IDA and 50 healthy subjects that were matched for age and sex. Patients who had glucose tolerance abnormalities (impaired glucose tolerance or diabetes mellitus), hemoglobinopathies, hemolytic anemia, chronic alcohol ingestion and chronic renal failure were excluded from the study. Hematologic investigations, fasting and postprandial glucose and HbA1c levels were measured in all subjects before iron therapy. All patients with IDA were treated with iron 100 mg/day for 3 months. We repeated the laboratory investigation after iron therapy. Before iron treatment, the mean HbA1c (7.4 +/- 0.8%) level in patients with IDA was higher than in a healthy group (5.9% +/- 0.5) (p < 0.001). In patients with IDA, HbA1c decreased significantly after iron treatment from a mean of 7.4% +/- 0.8 to 6.2% +/- 0.6 (p < 0.001). Iron deficiency must be corrected before any diagnostic or therapeutic decision is made based on HbA1c.
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PMID:Effect of iron deficiency anemia on the levels of hemoglobin A1c in nondiabetic patients. 1534 93

Thrombo-embolic events, which can be increased after splenectomy in hemoglobin disorders, can cause potentially lethal complications. Although venous thrombosis has been reported, arterial strokes are rarely reported. A case of stroke in a 52-year-old patient with a previously performed splenectomy for known hemoglobin Madrid, an extremely unstable hemoglobinopathy, led us to investigate the possible causal role of splenectomy. The patient had no history of hypertension, diabetes mellitus, smoking, or other vascular risk factors--but upon autopsy, thrombotic angiopathy was observed in multiple organs, including the lung, liver, kidney, coronary artery and brain. Bone marrow hyperplasia was also observed. A thrombotic middle cerebral artery territory infarction appears to have been caused by chronic recurrent thrombosis, which may have been a result of the splenectomy for unstable hemoglobinopathy. This case supports that splenectomy be strongly considered as an uncommon risk factor for stroke.
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PMID:Stroke induced by splenectomy in hemoglobin Madrid: autopsy clues to the underlying mechanism. 1574 2

Approximately 5.1% of the US population has diabetes mellitus, and hemoglobin (Hb) A1c levels are routinely measured to monitor long-term glycemic control in these patients. Many laboratories use ion exchange chromatography for such measurements, and the presence of hemoglobin variants and hemoglobinopathies often results in abnormal peaks on the chromatogram. The goal of this study was to evaluate the potential that detection of these abnormal peaks provides as a screening tool for Hb variants and hemoglobinopathies. We examined 366 specimens with abnormal peaks observed during routine Hb A1c measurements using the G7 Glycohemoglobin Analyzer (Tosoh Bioscience, Inc.). Hb variants and hemoglobinopathies were characterized by alkaline and acid electrophoresis, solubility testing for Hb S, and clinical parameters. In 252 cases, sickle cell trait was identified with a mean retention time (RT) of 1.44 (SD +/-0.02) min. In 82 cases, Hb C trait was identified with a mean RT of 1.66 +/-0.03 min. RTs for other Hb abnormalities, including sickle cell disease, homozygous Hb C disease, C Harlem trait, alpha-chain Hb variants, Hb D trait, Hb G trait, Hb J trait, Hb Raleigh, and Hb Lepore were also determined. Our results demonstrate that routine Hb A1c testing provides a potential screening tool for the detection of common hemoglobin variants and hemoglobinopathies. The previously unreported RTs for the G7 Glycohemoglobin Analyzer are provided, which can facilitate further testing in previously undiagnosed patients and confirm the cause of abnormal peaks in patients with known hemoglobin abnormalities.
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PMID:Screening for hemoglobinopathies during routine hemoglobin A1c testing using the Tosoh G7 Glycohemoglobin Analyzer. 1770 89

Chronic cutaneous ulcers are commonplace in the developing world, especially in rural areas with poor living conditions and often result from the trauma of road-traffic injuries. Chronic cutaneous ulcers may also be due to vascular insufficiency, neuropathy, nodular leprosy, pressure, diabetes, or hemoglobinopathies, or they may be tropical ulcers. If poorly managed, these lesions may undergo malignant transformation. We evaluated the clinical histories and treatment outcomes of patients seen at the University of Calabar Teaching Hospital, between January 2000 and December 2004, who had histologic diagnosis of Marjolin's ulcer, in an attempt to identify risk factors for this problem. The six patients were men, age 30-70 years (mean, 42 years). Trauma was the leading cause of injury leading to ulceration: road-traffic accidents (four patients, 66.7%), fall (one patient, 16.7%), and flame burn (one patient, 16.7%). Most injuries involved the limbs: lower (four patients, 66.7%) and upper (one patient, 16.7%). The histologic diagnosis in all the cases were squamous cell carcinoma and mean latency period from injury to diagnosis of malignancy was 18.5 years. All the patients had been admitted because of poor results from topical treatment. Three patients (50%) were managed with wide excision and skin grafting with the lesions healed. Ignorance as well as economic and sociocultural factors were the underlying issues. Education concerning the risks associated with chronic wounds and the need for prompt and proper surgical management are recommended.
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PMID:Marjolin's ulcer: the importance of surgical management of chronic cutaneous ulcers. 1795 27

Blood HbA1c determination is a powerful tool for the evaluation and management of patients with diabetes mellitus. Many HbA1c analytical methods demonstrate bias in samples from patients with hemoglobinopathies. This study evaluated the analytical performance of Roche Diagnostics' 1st and 2nd generation HbA1c assays in patients with or without hemoglobinopathies whose HbA1c levels were elevated or normal, respectively. Boronate-affinity high performance liquid chromatography (HPLC) served as the reference method. Whole blood samples were collected from 80 patients with HbS or HbC whose group mean HbA1c value was elevated and also from 80 patients without hemoglobinopathy whose HbA1c values were in the well-controlled range. Each sample was assayed for HbA1c by the Primus boronate-affinity HPLC technique and by Roche's 1st and 2nd generation immunoassays using a Cobas Integra 800 analytical system. Results by the HPLC technique were compared with the results of both Roche assays by linear regression and Bland-Altman analysis. The 1st and 2nd generation assays yielded regression lines and correlation values vs HPLC assay of y = 1.43x - 1.59; R(2) = 0.83, and y = 0.94x + 0.10; R(2) = 0.92, respectively, in the 80 patients with hemoglobinopathies. The mean difference and the +/-2SD range were greater in the 1st than in the 2nd generation assay (2.68, +/-2.07 vs -0.54, +/-0.86, respectively). The 2nd generation assay also showed better performance than the 1st generation assay in samples from the 80 patients without hemoglobinopathy. In conclusion, this study validates the accuracy of Roche's 2nd generation assay, which is substantially improved over Roche's 1st generation HbA1c assay.
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PMID:Performance of the Roche second generation hemoglobin A1c immunoassay in the presence of HB-S or HB-C traits. 1831 79

Muscle compromise associated with diabetes includes muscle infarction, myositis, pyomyositis, and abscess formation. These conditions may also be seen in various other conditions, such as trauma, alcoholism, neoplasia, vasculopathy, HIV infection, and other immunocompromised states and hemoglobinopathies. Due to recent advances in imaging technology, these entities are readily detected and treated at an earlier stage. Different diagnostic modalities may be used, particularly magnetic resonance imaging (MRI), which is best for soft-tissue pathologies. Muscle infarction appears with acute edema and inflammatory changes on T1- and T2-weighted images, enhancing peripherally postcontrast, and nonenhancing central areas suggestive of necrosis, lacking focal fluid collections. The latter feature may help to exclude abscesses, as these mostly present with fluid collections. Pyomyositis in its early period demonstrates ill-defined muscle enlargement with increased signal on T2-weighted images. Myositis shows no signal changes or mild hypointensity on T1-weighted images, but diffuse hyperintensity on T2-weighted images, with no or minimal enhancement following intravenous contrast media. Recognition of these pathologies is important, since management approaches vary depending on the etiology of the muscle involvement and overall status of the patient.
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PMID:Muscle compromise in diabetes. 1856 60

Diabetes mellitus (DM) is a frequent disorder affecting individuals of all ages. Glycohemoglobin (GHb) has a key role in the assessment of glycemic control in diabetic patients. Generally, GHb is measured as hemoglobin (Hb) A1C and is the result of an irreversible non-enzymatic glycation of the beta chain of hemoglobin A. HbA1C is used routinely to assess long term glycemic control in patients with DM. A variety of patient- and laboratory-related factors can adversely affect the measurement of HbA1C in patients harboring Hb variants or derivatives. In this article, problem of using hemoglobin A1C measurement in endemic area of hemoglobinopathy is addressed.
Prim Care Diabetes 2007 Sep
PMID:Problem of using hemoglobin A1C measurement in endemic area of hemoglobinopathy. 1863 40

Glycohemoglobin (HbA1c) estimation is the gold standard for assessing long-term glycemic control in diabetic patients. Some hemoglobin variants interfere with HbA1c assay, thus, limiting its utility. Over 150,000 diabetic patients are estimated to have hemoglobin variants in the United States; but this number may be up to 30% in some parts of the world. Although, most of the hemoglobinopathies are clinically silent, some of them cause biochemical aberrations, which could interfere with HbA1c assay. However, hemoglobin N-Baltimore has not been reported to give false HbA1c estimation. We present a woman with mistaken diagnosis of diabetes due to hemoglobin N-Baltimore that produced a spuriously elevated HbA1c level.
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PMID:A mistaken diagnosis of type 2 diabetes due to hemoglobin N-Baltimore. 1909 30


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