title: A novel mutation of the alpha2-globin causing alpha(+)-thalassemia: Hb Plasencia [alpha125(H8)Leu--Arg (alpha2).
abstract: We describe, in a Spanish family with moderate microcytosis and hypochromia, a novel nondeletional alpha-thalassemia (thal) mutation localized on the alpha2-globin gene. DNA sequencing revealed a point mutation at codon 125 (CTG --> CGG) in the heterozygous state, that was confirmed by restriction analysis. The resulting variant, which causes a nondeletional alpha-thal, was named Hb Plasencia [alpha125(H8)Leu --> Arg (alpha2)] after the place of residence of the affected family.
authors.affiliation: Servicio de Hematología y Hemoterapia del Hospital Virgen del Puerto, Plasencia, Spain.
authors.forename: Guillermo
authors.initials: G
authors.lastname: Martin
authors.forename: Ana
authors.initials: A
authors.lastname: Villegas
authors.forename: Fernando Ataulfo
authors.initials: FA
authors.lastname: González
authors.forename: Paloma
authors.initials: P
authors.lastname: Ropero
authors.forename: Ricardo
authors.initials: R
authors.lastname: Hojas
authors.forename: Marta
authors.initials: M
authors.lastname: Polo
authors.forename: Marta
authors.initials: M
authors.lastname: Mateo
authors.forename: Maria
authors.initials: M
authors.lastname: Salvador
authors.forename: Celina
authors.initials: C
authors.lastname: Benavente
mesh_terms: D000328:Adult; D000368:Aged; D019943:Amino Acid Substitution; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D005914:Globins / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D017354:Point Mutation / Q000235:genetics*; D013030:Spain; D017085:alpha-Thalassemia / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal; D005914:Globins