TY - JOUR
T1 - Hb Nouakchott [α114(GH2)Pro→Leu; HBA1
T2 - c.344C>T], A Second and Third Case Described in Two Unrelated Dutch Families
AU - Pondman, Kirsten M.
AU - Brinkman, Jacoline W.
AU - van der Straaten, Hanneke M.
AU - Stroobants, An K.
AU - Harteveld, Cornelis L.
N1 - Publisher Copyright:
© 2018 Informa UK Limited, trading as Taylor & Francis Group.
PY - 2018/1/2
Y1 - 2018/1/2
N2 - 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.
AB - 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.
KW - Hb Nouakchott
KW - Hemoglobin (Hb) variant
KW - hemoglobinopathy
KW - mutation
UR - http://www.scopus.com/inward/record.url?scp=85041591258&partnerID=8YFLogxK
U2 - 10.1080/03630269.2018.1429280
DO - 10.1080/03630269.2018.1429280
M3 - Article
C2 - 29405838
AN - SCOPUS:85041591258
SN - 0363-0269
VL - 42
SP - 51
EP - 53
JO - Hemoglobin
JF - Hemoglobin
IS - 1
ER -