Two new γ chain variants: Hb F-Augusta GA [Gγ59(E3)Lys→Arg; HBG2: C.179A>G] and Hb F-Port Royal-II [Aγ125(H3)Glu→Ala; HBG1: C.377A>C]

Ferdane Kutlar, Afshin Ameri, Niren H. Patel, Lina Zhuang, Lee E. Johnson, Michael L. Cheng, Abdullah Kutlar

Research output: Contribution to journalArticlepeer-review

1 Scopus citations

Abstract

The total number of hemoglobin (Hb) variants so far reported to the HbVar database is 1598 (April 9 2014) and 130 of them are fetal Hb variants. Fetal Hb are categorized as two different subunits, Gγ- and Aγ-globin chains, and γ chain variants can be observed in both subunits. There are 72 Gγ- and 58 Aγ-globin chain variants. Most of them are clinically silent and detected during newborn screening programs in the USA and outside the USA. In this report, we discuss the molecular characteristics and diagnostic difficulties of two new γ-globin chain variants found in an African American baby with no clinical symptoms. One is a new Gγ-globin chain variant, Hb F-Augusta GA [Gγ59(E3)Lys→Arg; HBG2: c.179A>G] and the other one is Hb F-Port Royal-II [Aγ125(H3)Glu→Ala; HBG1: c.377A>C].

Original languageEnglish (US)
Pages (from-to)376-380
Number of pages5
JournalHemoglobin
Volume38
Issue number5
DOIs
StatePublished - Oct 1 2014

Keywords

  • Hemoglobin (Hb) variants
  • Newborn
  • γ-Globin chains

ASJC Scopus subject areas

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

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