Hb Olivet (HBA1: C.40G > A; p.Ala14Thr), a Novel Silent Hemoglobin Variant in Two Families of Distinct Origin.
We report two families, members of which are carriers of a novel hemoglobin (Hb) variant that was named Hb Olivet [α13(A11)Ala→Thr (α1) (GCC > ACC); HBA1: c.40G > A; p.Ala14Thr]. The analysis of these cases allowed a clear description of this anomaly that behaves as a silent Hb. In the first family, of Portuguese ethnicity living in France, the proband, a 24-year-old male and his 57-year-old mother, both appeared to be carriers. The son presented with borderline mean corpuscular volume (MCV), while the mother was normocytic and normochromic. Hemoglobin separation on capillary electrophoresis (CE) was normal, while a slightly asymmetric peak was observed on high performance liquid chromatography (HPLC). In a second family, originally from Surinam but living in The Netherlands, the proband, a 6-year-old girl, showed a mild microcytosis at low ferritin levels. The abnormal Hb was inherited from the mother who was clearly iron depleted, was not present in the sister and brother of the proband. The microcytic hypochromic anemia was only shown in two out of a total of four carriers. It therefore seems likely that iron depletion is causative as two carriers are completely normal. Characterization and genotype/phenotype correlation are briefly described.
a Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics , Leiden University Medical Center (LUMC) , Leiden , the Netherlands.
Cornelis L
CL
Harteveld
b Laboratory of Genetics , Assistance Publique-Hôitaux De Paris (APHP), Groupe Hospitalier Universitaire (GHU) Henri Mondor, Universite Paris Est Créteil (UPEC) and Inserm Institut Mondor De Recherche Biologique (IMRB) U955eq2 , Créteil , France.
Serge
S
Pissard
c Department of Pediatrics , Groene Hart Hospital , Gouda , the Netherlands.
Anna M H
AM
Korver
d Laboratory of Genetics , Assistance Publique-Hôitaux De Paris (APHP), Groupe Hospitalier Universitaire (GHU) Henri Mondor , Créteil , France.
Jean
J
Riou
e Laboratory of Biology , Centre Hospitalier Régioonale (CHR) Orleans , Orleans , France.
Eric
E
Legac
f Clinical Chemistry, Groene Hart Hospital , Gouda , the Netherlands.
Gideon
G
Lansbergen
c Department of Pediatrics , Groene Hart Hospital , Gouda , the Netherlands.|g General Practitioner , Gouda , the Netherlands.
Inge L
IL
Pardijs
a Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics , Leiden University Medical Center (LUMC) , Leiden , the Netherlands.
Piero C
PC
Giordano
c Department of Pediatrics , Groene Hart Hospital , Gouda , the Netherlands.
Florens G A
FG
Versteegh
D002648:Child; D005190:Family; D005260:Female; D005602:France / Q000453:epidemiology; D056726:Genetic Association Studies; D006453:Hemoglobinopathies / Q000097:blood / Q000235:genetics / Q000473:pathology*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D000090463:Iron Deficiencies; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009426:Netherlands / Q000453:epidemiology; D011174:Portugal / Q000208:ethnology; D013532:Suriname / Q000208:ethnology; D055815:Young Adult
D006455:Hemoglobins, Abnormal
Abnormal hemoglobin (Hb); Hb Olivet; α-thalassemia (α-thal)