Hb Boskoop [HBA2c.112C>T p.Pro38Ser]: A New α2 Chain Variant Observed in a Morrocan Family

• Published in: Hemoglobin 2011-04, Vol.35 (2), p.97-102
• Main Authors: Versteegh, Florens G.A., Arkesteijn, Sandra G.J., Bakker-Verweij, Margreet, Haanappel, Karola, Delft, Peter van, Phylipsen, Marion, Kaufmann, Judith O., Kok, Peter J.M.J., Lansbergen, Gideon W.A., Giordano, Piero C., Harteveld, Cornelis L.
• Format: Article
• Language: English
• Subjects: Adult; alpha-Thalassemia - genetics; Amino Acid Substitution - genetics; Base Sequence; Capillary electrophoresis (CE); Child; Child, Preschool; Codon; Female; Hematologic Tests; Hemoglobin A2 - chemistry; Hemoglobin A2 - genetics; Hemoglobinopathies; High performance liquid chromatography (HPLC); Humans; Male; Pedigree; Point Mutation - genetics; Point mutations; α-Thalassemia (α-thal)
• ISSN: 0363-0269; 1532-432X
• DOI: 10.3109/03630269.2011.557459

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 α0-thal deletion defect.