title: Molecular identification of hereditary persistence of fetal hemoglobin type 2 (HPFH type 2) in patients from Brazil.
abstract: The HPFH deletion type 2 was first described in a patient from Ghana and is characterized by a large deletion of approximately 105 kb extension. We report here the results obtained in studying a black Brazilian patient who presented an association of beta-thalassemia and HPFH type 2, using a PCR strategy for detection of the breakpoint region. This procedure allows a rapid molecular identification of this condition and is a reliable procedure for screening patients with a hematological picture of HPFH deletion types.
authors.affiliation: Department of Hematology, School of Pharmacy and Biochemistry, Federal University of Salvador-BA, Brazil.
authors.forename: M S
authors.initials: MS
authors.lastname: Gonçalves
authors.forename: S
authors.initials: S
authors.lastname: Fahel
authors.forename: M S
authors.initials: MS
authors.lastname: Figueiredo
authors.forename: E J
authors.initials: EJ
authors.lastname: Kimura
authors.forename: F
authors.initials: F
authors.lastname: Nechtman
authors.forename: T A
authors.initials: TA
authors.lastname: Stoming
authors.forename: V R
authors.initials: VR
authors.lastname: Arruda
authors.forename: S T
authors.initials: ST
authors.lastname: Saad
authors.forename: F F
authors.initials: FF
authors.lastname: Costa
mesh_terms: D000328:Adult; D001938:Brazil / Q000453:epidemiology; D002648:Child; D005319:Fetal Hemoglobin / Q000032:analysis / Q000235:genetics; D017353:Gene Deletion; D005914:Globins / Q000235:genetics; D006453:Hemoglobinopathies / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D008297:Male; D017354:Point Mutation; D011401:Promoter Regions, Genetic; D017086:beta-Thalassemia / Q000453:epidemiology / Q000235:genetics*
chemical_list: D005914:Globins; D005319:Fetal Hemoglobin