Hb Olivet (HBA1: C.40G > A; p.Ala14Thr), a Novel Silent Hemoglobin Variant in Two Families of Distinct Origin
| Autor: | Serge Pissard, Piero C. Giordano, Eric Legac, Anna M H Korver, Gideon W.A. Lansbergen, Cornelis L. Harteveld, Inge L Pardijs, Florens G. A. Versteegh, Jean Riou |
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| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Proband Male medicine.medical_specialty Heterozygote Hemoglobins Abnormal Clinical Biochemistry Biology 03 medical and health sciences Young Adult 0302 clinical medicine Internal medicine medicine Humans Abnormal hemoglobin (Hb) Family Child Mean corpuscular volume Genetics (clinical) Genetic Association Studies Netherlands Genetics Suriname medicine.diagnostic_test Portugal Microcytosis Low ferritin Biochemistry (medical) Hemoglobin variants Hb Olivet Hematology Iron Deficiencies Middle Aged medicine.disease thalassemia (-thal) Hemoglobinopathies 030104 developmental biology Endocrinology Mutation Female Hemoglobin France 030215 immunology |
| Zdroj: | Hemoglobin, 40(5), 349-352 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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