title: Alpha-1-antitrypsin deficiency associated with the Mattawa variant.
abstract: The most common deficiency alleles for alpha-1-antitrypsin deficiency (AATD) are Pi*S and Pi*S, but there are also other deficiency variants. This case report describes the first two cases of AATD detected in Spain resulting from the combination of a null Mattawa allele with a normal PI*M, and a rare Mmalton. Both cases were initially diagnosed as Pi*MM by isoelectric focusing (IEF), but the low serum AAT values led us to suspect the existence of rare deficiency alleles that were undetectable using this technique, and to performing molecular analysis of the gene, which provided the correct diagnosis. Inconsistencies between serum AAT values and the phenotype should make one suspect the existence of one of these rare alleles.
authors.affiliation: Servicio de Neumología, Hospital Universitario Arnau de Vilanova, Lleida, España. Electronic address: beat1135@gmail.com.
authors.forename: Beatriz
authors.initials: B
authors.lastname: Lara
authors.forename: Beatriz
authors.initials: B
authors.lastname: Martínez-Delgado
authors.forename: Maria Luisa
authors.initials: ML
authors.lastname: Torres
authors.forename: Sandra
authors.initials: S
authors.lastname: Marín-Arguedas
authors.forename: Ana
authors.initials: A
authors.lastname: Bustamante
authors.forename: Marc
authors.initials: M
authors.lastname: Miravitlles
mesh_terms: D000368:Aged; D000483:Alleles; D001483:Base Sequence; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D007525:Isoelectric Focusing; D008875:Middle Aged; D010641:Phenotype; D000515:alpha 1-Antitrypsin / Q000235:genetics*; D019896:alpha 1-Antitrypsin Deficiency / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; C043392:SERPINA1 protein, human; D000515:alpha 1-Antitrypsin
keywords: Alpha-1-antitrypsin deficiency; Déficit de alfa-1-antitripsina; Mattawa; Registro Español de pacientes con déficit de alfa-1-antitripsina; Spanish Registry of patients with alpha-1-antitrypsin deficiency