Hb Nouakchott [α114(GH2)Pro→Leu; HBA1: c.344C>T], A Second and Third Case Described in Two Unrelated Dutch Families

Kirsten M. Pondman*, Jacoline W. Brinkman, Hanneke M. van der Straaten, An K. Stroobants, Cornelis L. Harteveld

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

3 Citations (Scopus)

Abstract

We report two families, members of which are carriers of a hemoglobin (Hb) variant previously described as Hb Nouakchott [α114(GH2)Pro→Leu; HBA1: c.344C>T; p.Pro115Leu]. In the first family of Dutch origin, the proband, a 32-year-old male and his 65-year-old father, were both carriers of Hb Nouakchott. Of the second family we tested, only the proband, a 56-year-old Dutch female was a Hb Nouakchott carrier. Hematological analyses of these cases showed the anomaly behaves as a silent Hb variant without clinical consequences. The Hb variant remained unnoticed using high performance liquid chromatography (HPLC), while an additional peak was detected by capillary electrophoresis (CE). These independent findings of Hb Nouakchott indicate that this Hb variant might not be very rare, but simply remains under diagnosed depending on the Hb separation technique used.

Original languageEnglish
Pages (from-to)51-53
Number of pages3
JournalHemoglobin
Volume42
Issue number1
DOIs
Publication statusPublished - 2 Jan 2018
Externally publishedYes

Keywords

  • Hb Nouakchott
  • Hemoglobin (Hb) variant
  • hemoglobinopathy
  • mutation

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