Two new hemoglobin variants: Hb tallahassee [α3(a1)ser→tyr; Hba2: C.11c>a] and hb madison-nc [β119(gh2)gly→ser; Hbb: C.358g>a]

Ferdane Kutlar, Yoram Unguru, Natalia Dixon, Niren Patel, Lakiea Bailey, Lina Zhuang, Harris Carmichael, Abdullah Kutlar

Research output: Contribution to journalArticle

Abstract

Of the 1570 reported hemoglobin (Hb) variants detected to date, 390 are α2-globin chain (some variants have yet to be identified by DNA analyses and are therefore presumed) and 827 are the result of mutations of the β-globin chain. Due to their location on the Hb structure, only a minority of these variants result in a clinical phenotype; most are silent and are detected during routine surveillance, are found incidentally during other disease-related investigations or following newborn screening programs. In this report we discuss phenotype/genotype and molecular characteristics of two new Hb variants, both of which were clinically silent. One is an α2-globin chain variant located at codon 3 [α3(A1)Ser→Tyr; HBA2: c.11C>A] named Hb Tallahassee and the other is a β-globin chain variant located at codon 119 [β119(GH2)Gly→Ser; HBB: c.358G>A] called Hb Madison-NC.

Original languageEnglish (US)
Pages (from-to)207-210
Number of pages4
JournalHemoglobin
Volume38
Issue number3
DOIs
StatePublished - 2014

Keywords

  • Hemoglobin
  • New
  • Variant

ASJC Scopus subject areas

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

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