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)

In India, hemoglobinopathies constitute a major genetic disorder and hemoglobin variants such as Hb S, Hb D Punjab, and Hb E are the most common ones. Other variants include Hb Q India, Hb Lepore, Hb J Meerut, Hb D Iran, etc. These variants show heterozygous state along with beta thalassemia. However, compound heterozygosities among these variants are very rare. Ethylenediaminetetraacetic acid whole blood sample received for routine thalassemia screening was subjected to alkaline electrophoresis using automated capillary zone electrophoresis. Suspecting the presence of rare variants, further analysis was carried out using Bio-Rad D10 and Tosoh G8 high-performance liquid chromatography (HPLC) systems. Capillary zone electrophoretograms showed the presence of peaks in zone Hb A, Hb D, a fused peak in Hb A2, and a small peak in Z1 zone. Bio-Rad and Tosoh chromatograms also indicated the presence of four peaks which are identified as Hb A, Hb D Punjab, Hb Q India, and hybrid of Hb D Punjab/Hb Q India. A peak in Hb D zone of capillary was due to co-migration of Hb D Punjab and Hb Q India variants. Small peak in Z1 zone indicated the presence of alpha chain variant Hb Q India. The findings were further confirmed by HPLC results and molecular genetic studies. The present study reports for the 1st time a rare hemoglobinopathy of double heterozygosity for Hb D Punjab, Hb Q India on Capillarys 2 Flex Piercing analyzer and is forth reported case for this rare hemoglobinopathy.
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PMID:Diagnosis of a rare double heterozygous Hb D Punjab/Hb Q India hemoglobinopathy using Sebia capillary zone electrophoresis. 2530 24

The article contains the literature review on laboratory criteria of detection and monitoring of the progression of the disease in patients with the diagnosis of diabetes mellitus. It also covers the issues of methodical approaches to the identification of glycated hemoglobin (HbA1c). The findings of author's researches of glycated hemoglobin in 149 patients have been given within the framework of comparison of two methodical approaches and comparison of the results with the subsequent classification of the received data. A random laboratory finding of qualitative hemoglobinopathy has been demonstrated, and the results recognized as unqualifiable and the approach to classification of such values have been discussed.Comparison of the results of glycated hemoglobin identification performed by different methods. 149 patients underwent a one-stage identification of glycated hemoglobin from plasma stabilized with K2-EDTA on Bio-Rad D10 and Sebia Capillarys Flex Piercing 2. Comparative study of the results of glycated hemoglobin identification has shown a difference in absolute values. However, a statistically reliable (p < 0.05) correlation between the values of glycated hemoglobin, expressed as a percentage obtained by different methods, has been revealed. In this case, the choice of a method for identifying glycated hemoglobin is not a matter of principal but it is important to adhere to the same method in treatment and long-term monitoring.
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PMID:[Relevant aspects of identification and interpretation of the glycated hemoglobin research findings.] 3147 98