Hb fulton-georgia [α20(B1)His→Pro; HBA1: C.62A>C]: A new α-Globin variant coinherited with α-Thalassemia-2 (3.7 kb deletion) and Hb SC disease

Lina Zhuang, Niren Patel, Shanequa Bryant, Abdullah Kutlar, Ferdane Kutlar, Andrew N. Young

Research output: Contribution to journalArticle

Abstract

We report a novel hemoglobin (Hb) variant that we named Hb Fulton-Georgia, caused by a point mutation in exon 1/codon 20 of the α-globin gene [α20(B1)His→Pro; HBA1: c.62A>C]. This α chain variant was identified in an adult African-American female with Hb SC disease who was also heterozygous for the α-thalassemia-2 (α-thal-2) (3.7 kb deletion or αα/-α3.7). The Hb Fulton-Georgia mutation was located on the intact α1-globin gene not involved by α-thal-2. Molecular models indicated that the α20 residue of Hb Fulton-Georgia was the first amino acid of the B helix, and was not involved in α1/β1 or α1/β2 contacts in Hb S [β6(A3)Glu→Val; HBB: c.20A>T] or Hb C [β6(A3)Glu→Lys; HBB: c.19G>A] tetramers. Furthermore, the histidine→proline substitution at α20 did not disrupt the helical structure. High performance liquid chromatography (HPLC) detected Hb Fulton-Georgia in 16.0% of total Hb, consistent with inheritance on the α1 gene. Coinheritance of Hb Fulton-Georgia, heterozygous α-thal-2 and Hb SC disease was associated with a mild phenotype, consisting of microcytosis and anisocytosis, but no anemia or other hematological abnormality.

Original languageEnglish (US)
Pages (from-to)481-485
Number of pages5
JournalHemoglobin
Volume37
Issue number5
DOIs
StatePublished - Sep 12 2013

Keywords

  • Electrophoresis
  • Gene sequencing
  • Hemoglobin (Hb) variants
  • High performance liquid chromatography (HPLC)
  • α-Globin

ASJC Scopus subject areas

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

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