A Novel β -Globin Chain Hemoglobin Variant, Hb Allentown [ β 137(H15)Val→Trp (GT G> TG G) HBB: C.412-413delinsTG, p.Val138Trp], Associated with Low Oxygen Saturation, Intermittent Aplastic Crises and Splenomegaly

Anderson B. Collier, Lea M. Coon, Philip Monteleone, Samuel Umaru, Kenneth C. Swanson, James Hoyer, Jennifer Oliveira

Research output: Contribution to journalArticle

2 Scopus citations

Abstract

Hemoglobin (Hb) variants may be associated with low oxygen saturation and exacerbated episodes of anemia from common stressors such as viral infections. These attributes frequently cause increased clinical concern and unnecessary and expensive testing if not considered early in the evaluation of the patient. Some clinically significant Hb variants result in a normal Hb electrophoresis result, which can be method-dependent. Herein we describe a patient with low oxygen saturation and a history of hemolytic anemia who was subsequently found to carry a novel, unstable β-globin variant that we have named Hb Allentown [β137(H15)Val→Trp (GTG>TGG) HBB: c.412-413delinsTG, p.Val138Trp] for the place of identification of the variant. Hb Allentown is formed by a rare double nucleotide substitution within the same codon. Additionally, positive identification of rare Hb variants characterized by a single method is discouraged, as the Hb variant was misclassified as Hb S-South End or β6(A3)Glu→Val;β132(H10)Lys→Asn (HBB: c.[20A > T;399A > C]) by the initial laboratory.

Original languageEnglish (US)
Pages (from-to)130-133
Number of pages4
JournalHemoglobin
Volume40
Issue number2
DOIs
StatePublished - Mar 3 2016

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Keywords

  • Double nucleotide substitution
  • Hb Allentown
  • Hb S-South End
  • low oxygen affinity
  • low oxygen saturation
  • unstable Hb
  • variant Hb

ASJC Scopus subject areas

  • Hematology
  • Genetics(clinical)
  • Clinical Biochemistry
  • Biochemistry, medical

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