A new ªγ-globin chain variant: Hb F-Sykesville MD [ªγ113(G15)Val → Ile; HBG1: C.340G>A] detected in a caucasian baby

Niren Patel, Jason Fixler, Yoram Unguru, Abdullah Kutlar, Ferdane Kutlar

Research output: Contribution to journalArticle

1 Scopus citations

Abstract

The total number of hemoglobin (Hb) variants currently included in the globin gene server database is 1626 (November 12 2014), of which 131 are fetal Hb variants. These variants are observed as two different subunits of fetal Hb, Gγ- and Aγ-globin chains. Of the 131 documented fetal Hb variants, 73 are Gγ- and 58 are Aγ-globin chain variants. Although they are easily detected at birth, as the quantity of γ chains progressively decreases over the first few months of life, they are essentially undetectable after 6 months of age. In this report we discuss the molecular characteristics and diagnostic criteria of a new Aγ chain variant that was detected during newborn screening and named Hb F-Sykesville MD [Aγ113(G15)Val → Ile; HBG1: c.340G>A].

Original languageEnglish (US)
Pages (from-to)52-54
Number of pages3
JournalHemoglobin
Volume39
Issue number1
DOIs
Publication statusPublished - Jan 1 2015

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Keywords

  • Hb F-sykesville MD
  • New variant
  • Newborn
  • γ-globin chain

ASJC Scopus subject areas

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

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