Hb F-Porto Torres [Aγ75(E19)Ile→Thr, 136(H14)Ala→Ser]: A Novel Variant of the Aγ Chain Having Two Substitutions, One Being that of Hb F-Sardinia

The abnormal Hb F-Porto Torres [Aγ75(E19)Ile→Thr, 136(H14)Ala→Ser] was observed during a cord blood survey for hemoglobinopathies in North Sardinia. This silent variant showed the same mobility as Hb F-Sardinia in isoelectric focusing (IEF) of the tetramers, whereas the abnormal globin chain was cle...

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Published in:Hemoglobin 2004, Vol.28 (4), p.297-303
Main Authors: Pirastru, Monica, Manca, Laura, Palici di Suni, Marcella, Speziga, Silvia Maria, Masala, Bruno
Format: Article
Language:English
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Globin
Hb F-Porto Torres
γ-Globin
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container_title Hemoglobin
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creator Pirastru, Monica
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Palici di Suni, Marcella
Speziga, Silvia Maria
Masala, Bruno
description The abnormal Hb F-Porto Torres [Aγ75(E19)Ile→Thr, 136(H14)Ala→Ser] was observed during a cord blood survey for hemoglobinopathies in North Sardinia. This silent variant showed the same mobility as Hb F-Sardinia in isoelectric focusing (IEF) of the tetramers, whereas the abnormal globin chain was clearly separated by acid-urea-Triton polyacrylamide gel electrophoresis (AUT-PAGE) from the normal Gγ- and Aγ-globin chains. Separation of the globin chains by reversed phase high performance liquid chromatography (HPLC) indicated the following percentages: Gγ 68.4, Aγ 14.0, Xγ 17.6, that strongly suggested the abnormal chain as being a variant of the Aγ-globin. Sequencing of the γ-globin genes indicated that the mutated gene was in fact an Aγ with two nucleotide replacements, one being the ATA→ACA (Ile→Thr) at codon 75 (the so-called AγT of the rather common Hb F-Sardinia) and the second the GCA→TCA (Ala→Ser) at codon 136. This new variant is the seventh having the sequence of the AγT chain with an additional mutation so far described and the third characterized by gene sequencing.
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source Taylor and Francis:Jisc Collections:Taylor and Francis Read and Publish Agreement 2024-2025:Medical Collection (Reading list)
subjects Globin
Hb F-Porto Torres
γ-Globin
title Hb F-Porto Torres [Aγ75(E19)Ile→Thr, 136(H14)Ala→Ser]: A Novel Variant of the Aγ Chain Having Two Substitutions, One Being that of Hb F-Sardinia
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