Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019045 (hemoglobinopathies)
 2,704 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hemoglobinopathy was detected in a 72-year-old female with basal cell carcinoma of the genial region during high-performance liquid chromatography of hemolysate for the assay of HbA1c. Structural analysis demonstrated that this abnormal hemoglobin was identical to Hb Hope [beta 136(H14)Gly----Asp]. No clinical or hematological abnormality was observed. A study of the family revealed that a younger sister and two sons of the propositus had the same hemoglobin variant. This is the second observation of Hb Hope in a Japanese family.
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PMID:Hemoglobin Hope found in a patient with basal cell carcinoma of the genial region. 258 61

We evaluated the analytical performances of the new Sebia kit for quantification of hemoglobin fractions (HbA, HbF and HbA2) and structural hemoglobin variants on the Capillarys system. This automated capillary zone electrophoresis method uses an alkaline buffer with silica capillaries and spectrophotometric detection. Specimen stability was evaluated during 1 month. The reproducibility of migration and the imprecision of quantification were also investigated. Comparison with the Beckman P/ACE system was performed on 202 samples. A total of 131 subjects without any hematological abnormality were analyzed to establish the HbA2 reference ranges based on our local population. Quantification of the Hb fractions and variants exhibited excellent stability for 4 weeks of storage at 4 degrees C, with CVs < 0.3%. The imprecision of the migration normalized to that of HbA2 for all hemoglobins tested (fractions and variants) was low, with a CV of < 2.5%. At physiological and pathological levels, total imprecision ranged from 1.9% to 4.6% for HbA2, from 0.6% to 9.7% for HbF, and from 0.6% to 1% for HbS. Statistical analysis revealed a small proportional negative bias for HbA2 (-8.6%). Small systematic bias (-0.2%) and proportional bias (-28%) were observed for HbF. No statistically significant difference was found for HbS. The reference range for HbA2 was 2.1-3.2%. The Capillarys system is a fully automated and accurate system that gives high-resolution performance and displays appropriate characteristics for use as a routine method for the diagnosis of thalassemias and hemoglobinopathies.
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PMID:Evaluation of a new Sebia kit for analysis of hemoglobin fractions and variants on the Capillarys system. 1651 9

Hemoglobin Aalborg is a moderately unstable hemoglobin variant with no affiliation to serious hematological abnormality or major clinical symptoms under normal circumstances. Our index person was a healthy woman of 58, not previously diagnosed with hemoglobinopathy Aalborg, who developed acute respiratory failure after a routine cholecystectomy. Initially she was suspected of idiopathic interstitial lung disease, yet a series of tests uncovered various abnormal physiological parameters and set the diagnosis of hemoglobinopathy Aalborg. This led us to examine a group of the index person's relatives known with hemoglobinopathy Aalborg in order to study whether the same physiological abnormalities would be reencountered. They were all subjected to spirometry and body plethysmography, six-minute walking test, pulse oximetry, and arterial blood gas samples before and after the walking test. The entire study population presented the same physiological anomalies: reduction in diffusion capacity, and abnormalities in P(a)O2 and p50 values; the latter could not be presented by the arterial blood gas analyzer; furthermore there was concordance between pulse oximetry and arterial blood gas samples regarding saturation. These data suggest that, based upon the above mentioned anomalies in physiological parameters, the diagnosis of hemoglobinopathy Aalborg should be considered.
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PMID:Hemoglobin variant (hemoglobin Aalborg) mimicking interstitial pulmonary disease. 2540 Sep 45