title: Hb Boskoop [HBA2c.112C>T p.Pro38Ser]: a new α2 chain variant observed in a Morrocan family.
abstract: 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.
authors.affiliation: Department of Pediatrics, Groene Hart Ziekenhuis, Gouda, The Netherlands.
authors.forename: Florens G A
authors.initials: FG
authors.lastname: Versteegh
authors.forename: Sandra G J
authors.initials: SG
authors.lastname: Arkesteijn
authors.forename: Margreet
authors.initials: M
authors.lastname: Bakker-Verweij
authors.forename: Karola
authors.initials: K
authors.lastname: Haanappel
authors.forename: Peter
authors.initials: P
authors.lastname: van Delft
authors.forename: Marion
authors.initials: M
authors.lastname: Phylipsen
authors.forename: Judith O
authors.initials: JO
authors.lastname: Kaufmann
authors.forename: Peter J M J
authors.initials: PJ
authors.lastname: Kok
authors.forename: Gideon W A
authors.initials: GW
authors.lastname: Lansbergen
authors.forename: Piero C
authors.initials: PC
authors.lastname: Giordano
authors.forename: Cornelis L
authors.initials: CL
authors.lastname: Harteveld
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D003062:Codon; D005260:Female; D006403:Hematologic Tests; D006443:Hemoglobin A2 / Q000737:chemistry / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics*; D017085:alpha-Thalassemia / Q000235:genetics*
chemical_list: D003062:Codon; D006443:Hemoglobin A2