Hemoglobin A<sub>2</sub> and Heterogeneous Diagnostic Relevance Observed in Eight New Variants of the Delta Globin Gene
Background: Hemoglobin A (Hb A) (α<sub>2</sub>β<sub>2</sub>) in the normal adult subject constitutes 96–98% of hemoglobin, and Hb F is normally less than 1%, while for hemoglobin A<sub>2</sub> (Hb A<sub>2</sub>) (α<sub>2</sub>δ<sub>2&...
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2021
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oai:doaj.org-article:0abe52cf22fe4589a5812a98703fea2b2021-11-25T17:42:23ZHemoglobin A<sub>2</sub> and Heterogeneous Diagnostic Relevance Observed in Eight New Variants of the Delta Globin Gene10.3390/genes121118212073-4425https://doaj.org/article/0abe52cf22fe4589a5812a98703fea2b2021-11-01T00:00:00Zhttps://www.mdpi.com/2073-4425/12/11/1821https://doaj.org/toc/2073-4425Background: Hemoglobin A (Hb A) (α<sub>2</sub>β<sub>2</sub>) in the normal adult subject constitutes 96–98% of hemoglobin, and Hb F is normally less than 1%, while for hemoglobin A<sub>2</sub> (Hb A<sub>2</sub>) (α<sub>2</sub>δ<sub>2</sub>), 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<sub>2</sub> 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<sub>2</sub> 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.Noraesah MahmudMassimo MaffeiMassimo MogniGian Luca ForniValeria Maria PintoGiuseppina BarberioSilvana UngariAntonella MaffèCristina CurcioFrancesco ZanolliRaffaella PaventaMariarosa CartaAlberta CaleffiMariella MercadantiSauro MaoggiGiovanni IvaldiDomenico CovielloMDPI AGarticleδ-globin geneδ-globin gene variantHb A<sub>2</sub>-variantβ-thalassemiaHb-variantsGeneticsQH426-470ENGenes, Vol 12, Iss 1821, p 1821 (2021) |
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| topic |
δ-globin gene δ-globin gene variant Hb A<sub>2</sub>-variant β-thalassemia Hb-variants Genetics QH426-470 |
| spellingShingle |
δ-globin gene δ-globin gene variant Hb A<sub>2</sub>-variant β-thalassemia Hb-variants Genetics QH426-470 Noraesah Mahmud Massimo Maffei Massimo Mogni Gian Luca Forni Valeria Maria Pinto Giuseppina Barberio Silvana Ungari Antonella Maffè Cristina Curcio Francesco Zanolli Raffaella Paventa Mariarosa Carta Alberta Caleffi Mariella Mercadanti Sauro Maoggi Giovanni Ivaldi Domenico Coviello Hemoglobin A<sub>2</sub> and Heterogeneous Diagnostic Relevance Observed in Eight New Variants of the Delta Globin Gene |
| description |
Background: Hemoglobin A (Hb A) (α<sub>2</sub>β<sub>2</sub>) in the normal adult subject constitutes 96–98% of hemoglobin, and Hb F is normally less than 1%, while for hemoglobin A<sub>2</sub> (Hb A<sub>2</sub>) (α<sub>2</sub>δ<sub>2</sub>), 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<sub>2</sub> 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<sub>2</sub> 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. |
| format |
article |
| author |
Noraesah Mahmud Massimo Maffei Massimo Mogni Gian Luca Forni Valeria Maria Pinto Giuseppina Barberio Silvana Ungari Antonella Maffè Cristina Curcio Francesco Zanolli Raffaella Paventa Mariarosa Carta Alberta Caleffi Mariella Mercadanti Sauro Maoggi Giovanni Ivaldi Domenico Coviello |
| author_facet |
Noraesah Mahmud Massimo Maffei Massimo Mogni Gian Luca Forni Valeria Maria Pinto Giuseppina Barberio Silvana Ungari Antonella Maffè Cristina Curcio Francesco Zanolli Raffaella Paventa Mariarosa Carta Alberta Caleffi Mariella Mercadanti Sauro Maoggi Giovanni Ivaldi Domenico Coviello |
| author_sort |
Noraesah Mahmud |
| title |
Hemoglobin A<sub>2</sub> and Heterogeneous Diagnostic Relevance Observed in Eight New Variants of the Delta Globin Gene |
| title_short |
Hemoglobin A<sub>2</sub> and Heterogeneous Diagnostic Relevance Observed in Eight New Variants of the Delta Globin Gene |
| title_full |
Hemoglobin A<sub>2</sub> and Heterogeneous Diagnostic Relevance Observed in Eight New Variants of the Delta Globin Gene |
| title_fullStr |
Hemoglobin A<sub>2</sub> and Heterogeneous Diagnostic Relevance Observed in Eight New Variants of the Delta Globin Gene |
| title_full_unstemmed |
Hemoglobin A<sub>2</sub> and Heterogeneous Diagnostic Relevance Observed in Eight New Variants of the Delta Globin Gene |
| title_sort |
hemoglobin a<sub>2</sub> and heterogeneous diagnostic relevance observed in eight new variants of the delta globin gene |
| publisher |
MDPI AG |
| publishDate |
2021 |
| url |
https://doaj.org/article/0abe52cf22fe4589a5812a98703fea2b |
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