Publication Cover
Hemoglobin
international journal for hemoglobin research
Volume 32, 2008 - Issue 4
70
Views
1
CrossRef citations to date
0
Altmetric
Original Article

Hb Montreal II: A Novel Elongated β-Globin Variant Caused by a Frameshift Mutation [β142 (−C)]

, , , , , , & show all
Pages 351-359 | Received 25 Sep 2007, Accepted 14 Nov 2007, Published online: 07 Jul 2009
 

Abstract

We report a novel elongated C-terminal β hemoglobin (Hb) variant caused by a single nucleotide (C) deletion at codon 143 (nucleotide 480 of GenBank entry NM_000518). This deletion leads to the substitution of histidine 143 by threonine, and displaces the β Hb gene stop codon from codon 147 to codon 157. It was identified in a 30-year-old man from Montreal, and called Hb Montreal II. This Hb variant differs from its normal counterpart by 14 residues, the latter 10 being identical to those observed in Hbs Tak, Cranston, Saverne, Trento, and Florida. The patient did not present thalassemic features but had a compensated chronic hemolysis with splenomegaly, red cell inclusion bodies, and a positive Kleihauer test.

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.