Hb Boskoop [HBA2c.112C>T p.Pro38Ser]: A New α2 Chain Variant Observed in a Morrocan Family
| Autor: | Peter J.M.J. Kok, Judith O. Kaufmann, Piero C. Giordano, Margreet Bakker-Verweij, Sandra G.J. Arkesteijn, Florens G. A. Versteegh, Cornelis L. Harteveld, Peter van Delft, Marion Phylipsen, Gideon W.A. Lansbergen, Karola Haanappel |
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| Rok vydání: | 2011 |
| Předmět: |
Adult
Male Clinical Biochemistry Mutant Population Capillary electrophoresis (CE) Biology High-performance liquid chromatography alpha-Thalassemia Point mutations Humans Point Mutation alpha-Thalassemia (alpha-thal) Hemoglobin A2 Child Codon education Gene Genetics (clinical) Genetics education.field_of_study Hematologic Tests Base Sequence Point mutation Biochemistry (medical) Hematology Phenotype Molecular biology Pedigree Abnormal hemoglobin Hemoglobinopathies Amino Acid Substitution Child Preschool New mutation Female High performance liquid chromatography (HPLC) |
| Zdroj: | Hemoglobin, 35(2), 97-102 |
| ISSN: | 1532-432X 0363-0269 |
| DOI: | 10.3109/03630269.2011.557459 |
| Popis: | We describe a new nondeletional α-thalassemia (α-thal) determinant found in a Moroccan infant and in two members of his family. The new mutation generates an abnormal hemoglobin (Hb) as a consequence of a Pro→Ser amino acid substitution at codon 37 (old nomenclature) of the α2 gene. The new Hb variant is barely separable on high performance liquid chromatography (HPLC) but the expression of the α chain mutant measured on reversed phase chromatography is one-third of that expected from a stable α2 variant, which explains the mild α-thal phenotype observed in the carriers. As shown for other mutations described in our laboratory (i.e., Hb Gouda), this variant could also be common in the North African population, overlooked because of the mild phenotype and silent behavior on HPLC. Nevertheless, these silent variants could generate intermediate Hb H diseases in association with Mediterranean α(0)-thal deletion defect. |
| Databáze: | OpenAIRE |
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