First detection of Hb Taybe [α38(C3) or α39(C4) Thr→0 (α1)] in an Italian child

Hemoglobin. 2012;36(3):299-304. doi: 10.3109/03630269.2012.659780. Epub 2012 Mar 19.

Abstract

Hb Taybe [α38(C3) or α39(C4) Thr→0 (α1)] is an unstable hemoglobin (Hb) variant caused by a deletion of a threonine residue at codon 39 of the α1-globin chain. Usually asymptomatic or with minimal hematological abnormalities in the heterozygous state, Hb Taybe becomes clinically evident in compound heterozygosity with α-thalassemia (α-thal) or in homozygous patients. To date, Hb Taybe has been described in Israeli-Arab and Greek individuals. We report, for the first time, a patient with chronic hemolytic anemia due to the presence of Hb Taybe in trans to the α2 initiation codon mutation ATG>ACG in an Italian child. Hb Taybe was not evident at Hb analysis with cellulose acetate electrophoresis and high performance liquid chromatography (HPLC). Globin biosynthetic studies revealed an α/β-globin ratio in the range of β-thal trait. Consequently, an investigation of the α- and β-globin genes was requested in order to avoid missing any rare globin chain variant and to offer accurate genetic counseling.

Publication types

  • Case Reports

MeSH terms

  • Anemia, Hemolytic / genetics
  • Anemia, Hemolytic / pathology
  • Base Sequence
  • Child, Preschool
  • Chronic Disease
  • Codon, Initiator / genetics
  • DNA Mutational Analysis
  • Hemoglobins, Abnormal / genetics*
  • Humans
  • Italy
  • Male
  • Mutation
  • Sequence Deletion*
  • Threonine / genetics*
  • alpha-Globins / genetics*

Substances

  • Codon, Initiator
  • Hemoglobins, Abnormal
  • alpha-Globins
  • hemoglobin Taybe
  • Threonine