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Capillary electrophoresis and mutational images of hemoglobin sendagi Β42 (CD1) PHE → VAL; HBB: C.127T→G.

08:00 EDT 9th July 2019 | BioPortfolio

Summary of "Capillary electrophoresis and mutational images of hemoglobin sendagi Β42 (CD1) PHE → VAL; HBB: C.127T→G."

We report two cases of hemoglobin Sendagi in a Romanian family residing in Spain: a four-year-old boy and his mother, who had been previously diagnosed with another type of congenital hemolytic anemia and had undergone splenectomy in her country during childhood. The unstable hemoglobin variant, hemoglobin Sendagi, is characterized by decreased oxygen affinity caused by replacement of one of the critical amino acid residues, phenylalanine beta 42 (CD1) of the beta-chain, with valine in the heme pocket, resulting in methemoglobin formation. As a result of migratory movements in Europe, new disease-causing hemoglobin variants are emerging in our country. Here, capillary electrophoresis enabled the identification of the variant and a molecular study was used to establish an accurate diagnosis.

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Name: Clinical biochemistry
ISSN: 1873-2933
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Medical and Biotech [MESH] Definitions

Biochemical identification of mutational changes in a nucleotide sequence.

A separation technique which combines LIQUID CHROMATOGRAPHY and CAPILLARY ELECTROPHORESIS.

A highly-sensitive (in the picomolar range, which is 10,000-fold more sensitive than conventional electrophoresis) and efficient technique that allows separation of PROTEINS; NUCLEIC ACIDS; and CARBOHYDRATES. (Segen, Dictionary of Modern Medicine, 1992)

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Electrophoresis in which a second perpendicular electrophoretic transport is performed on the separate components resulting from the first electrophoresis. This technique is usually performed on polyacrylamide gels.

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