Publication Cover
Hemoglobin
international journal for hemoglobin research
Volume 28, 2004 - Issue 4
41
Views
2
CrossRef citations to date
0
Altmetric
Original Article

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

, , , &
Pages 297-303 | Received 05 May 2004, Accepted 15 Jun 2004, Published online: 24 Aug 2009
 

Abstract

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.

Log in via your institution

Log in to Taylor & Francis Online

PDF download + Online access

  • 48 hours access to article PDF & online version
  • Article PDF can be downloaded
  • Article PDF can be printed
USD 65.00 Add to cart

Issue Purchase

  • 30 days online access to complete issue
  • Article PDFs can be downloaded
  • Article PDFs can be printed
USD 1,628.00 Add to cart

* Local tax will be added as applicable

Related Research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.