title: Hemoglobin H disease resulting from the association of the - alpha 3.7 rightward deletion and the (alpha alpha)MM deletion in a Brazilian patient.
abstract: A patient with Hb H disease resulting from the association of the - alpha 3.7 rightward deletion with the rare (alpha alpha)MM deletion, which removes the entire alpha-major regulatory element (MRE), is reported. This is the first description of an alpha-thalassemic mutation resulting from deletion of the locus-controlling sequences in the South-American population.
authors.affiliation: Department of Clinical Pathology and Department of Clinical Medicine, School of Medical Sciences, State University of Campinas-UNICAMP, Campinas, São Paulo, Brazil.
authors.forename: M R S C
authors.initials: MR
authors.lastname: Wenning
authors.forename: C L
authors.initials: CL
authors.lastname: Harteveld
authors.forename: P C
authors.initials: PC
authors.lastname: Giordano
authors.forename: E M
authors.initials: EM
authors.lastname: Kimura
authors.forename: S T O
authors.initials: ST
authors.lastname: Saad
authors.forename: F F
authors.initials: FF
authors.lastname: Costa
authors.forename: M F
authors.initials: MF
authors.lastname: Sonati
mesh_terms: D000328:Adult; D000483:Alleles; D001938:Brazil; D017353:Gene Deletion; D005914:Globins / Q000235:genetics*; D006801:Humans; D008297:Male; D017085:alpha-Thalassemia / Q000209:etiology / Q000235:genetics*
chemical_list: D005914:Globins