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- Title
Hb Murcia (ß118(G19)His>Gln): A New Hemoglobin Variant Found in a Spanish Woman.
- Authors
González Fernández, Beatriz; Nieto Campuzano, José Bartolomé; García Rocamora, Dolores; Nieto, Jorge M.; González Fernández, Fernando Ataúlfo; Villegas, Ana; Benavente Cuesta, Celina; Ropero, Paloma
- Abstract
ISSN 2234-3806 • eISSN 2234-3814 514 www.annlabmed.org https://doi.org/10.3343/alm.2021.41.5.514 Ann Lab Med 2021;41:514-517 https://doi.org/10.3343/alm.2021.41.5.514 Letter to the Editor Diagnostic Genetics Hb Murcia ( 118(G19)His>Gln): A New Hemoglobin Variant Found in a Spanish Woman Beatriz González Fernández, M.S. 1,2, José Bartolomé Nieto Campuzano, M.D. 3, Dolores García Rocamora, M.D. 4, Jorge M Nieto, M.S. 1,2, Fernando Ataúlfo González Fernández, M.D. 1, Ana Villegas, M.D., Ph.D. 1, Celina Benavente Cuesta, M.D. 1, and Paloma Ropero, Ph.D. 1,2 1 Servicio de Hematología, Hospital Clínico San Carlos, Madrid, Spain; 2 Instituto de Investigación Sanitaria Hospital Clínico San Carlos, Madrid, Spain; 3 Servicio de Hematología, Hospital Morales Meseguer, Murcia, Spain; 4 Servicio de Bioquímica, Hospital Morales Meseguer, Murcia, Spain Dear Editor, Structural hemoglobinopathies are the most common monogenic disorders globally [1]. A Swiss family with hemoglobin P Galveston 117His leads to Arg, including two patients with Hb P/ -thalassemia. Most hemoglobin (Hb) variants are clinically silent but can be identified during neonatal screening, in population studies, or during the quantification of glycated Hb (HbA1c) [2]. However, chromatographic analysis by CE-HPLC using the -thalassemia short program (VARIANT, Bio-Rad Laboratories) revealed the presence of an Hb variant at retention time 2.36 minutes, which accounted for 37.3% of the total Hb.
- Subjects
HEMOGLOBIN polymorphisms; CAPILLARY electrophoresis; GLOBIN genes; PLATELET count
- Publication
Annals of Laboratory Medicine, 2021, Vol 41, Issue 5, p514
- ISSN
2234-3806
- Publication type
Article
- DOI
10.3343/alm.2021.41.5.514