Hemoglobin A 2 and Heterogeneous Diagnostic Relevance Observed in Eight New Variants of the Delta Globin Gene.

Autor: Mahmud N; Laboratorio Genetica Umana, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.; Department of Pathology, Hospital Kuala Lumpur, Kuala Lumpur 50586, Malaysia., Maffei M; Laboratorio Genetica Umana, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy., Mogni M; Laboratorio Genetica Umana, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy., Forni GL; Centro Microcitemia e Anemie Congenite, Ospedali Galliera, 16128 Genova, Italy., Pinto VM; Centro Microcitemia e Anemie Congenite, Ospedali Galliera, 16128 Genova, Italy., Barberio G; Medicina di Laboratorio, Azienda ULSS 2 Marca Trevigiana, 31100 Treviso, Italy., Ungari S; Genetica e Biologia Molecolare ASO S. Croce e Carle, 12100 Cuneo, Italy., Maffè A; Genetica e Biologia Molecolare ASO S. Croce e Carle, 12100 Cuneo, Italy., Curcio C; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milano, Italy., Zanolli F; Formerly, Servizio di Immunoematologia e Medicina Trasfusionale, A.O. Santa Maria degli Angeli, 33170 Pordenone, Italy., Paventa R; Formerly Laboratorio Analisi, ASL AT, 14100 Asti, Italy., Carta M; Medicina di Laboratorio, Ospedale S. Bortolo, AULSS 8 Berica, 36100 Vicenza, Italy., Caleffi A; U.O. Diagnostica Ematochimica, Azienda Ospedaliero-Universitaria, 43126 Parma, Italy., Mercadanti M; U.O. Diagnostica Ematochimica, Azienda Ospedaliero-Universitaria, 43126 Parma, Italy., Maoggi S; Sebia-Italia S.r.l., 50012 Bagno a Ripoli, Italy., Ivaldi G; Formerly, Laboratorio Genetica Umana, Galliera Hospital, 16128 Genova, Italy., Coviello D; Laboratorio Genetica Umana, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.
Jazyk: angličtina
Zdroj: Genes [Genes (Basel)] 2021 Nov 19; Vol. 12 (11). Date of Electronic Publication: 2021 Nov 19.
DOI: 10.3390/genes12111821
Abstrakt: Background: Hemoglobin A (Hb A) (α 2 β 2 ) in the normal adult subject constitutes 96-98% of hemoglobin, and Hb F is normally less than 1%, while for hemoglobin A 2 (Hb A 2 ) (α 2 δ 2 ), the normal reference values are between 2.0 and 3.3%. It is important to evaluate the presence of possible delta gene mutations in a population at high risk for globin gene defects in order to correctly diagnose the β-thalassemia carrier.
Methods: The most used methods for the quantification of Hb A 2 are based on automated high performance liquid chromatography (HPLC) or capillary electrophoresis (CE). In particular Hb analyses were performed by HPLC on three dedicated devices. DNA analyses were performed according to local standard protocols.
Results: Here, we described eight new δ-globin gene variants discovered and characterized in some laboratories in Northern Italy in recent years. These new variants were added to the many already known Hb A 2 variants that were found with an estimated frequency of about 1-2% during the screening tests in our laboratories.
Conclusions: The knowledge recognition of the delta variant on Hb analysis and accurate molecular characterization is crucial to provide an accurate definitive thalassemia diagnosis, particularly in young subjects who would like to ask for a prenatal diagnosis or preimplantation genetic diagnosis.
Databáze: MEDLINE
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