title: Evaluation of HPFH and δβ-thalassemia  mutations in a Brazilian group with high Hb F levels.
abstract: Fetal  hemoglobin (Hb F) is characteristic of the fetal development period. However,  in some genetic conditions, such as hereditary persistence of fetal hemoglobin  (HPFH) and delta-beta thalassemia (δβ-thalassemia), Hb F continues to be produced in  adulthood. We evaluated the frequency of two mutations of HPFH, HPFH-1 and  HPFH-2 African, and two mutations in δβ-thalassemia, Sicilian and Spanish, in a Brazilian  population. Peripheral blood samples were collected from adults from hospitals  and blood centers in southeast and northeast Brazil. These individuals were  healthy and without complaints of anemia, but had increased Hb F. Samples were  submitted to electrophoretic and chromatographic analyses to quantify Hb F  values and, subsequently, to molecular analyses to verify the mutations. In the  molecular analysis, 16 of the 60 samples showed a heterozygous profile for the  HPFH mutations, two for HPFH-1 and 14 for HPFH-2. In the same sample set, three  were heterozygous for Spanish δβ-thalassemia  and none were heterozygous for Sicilian δβ- thalassemia. The Hb F values in the HPFH-2  heterozygotes differed from those previously reported for this mutation. In  this group, the HPFH mutations were more frequent than the δβ-thalassemia  mutations. The finding of these mutations in this Brazilian population reflects  the mixing process that occurred during its formation.
authors.affiliation: Laboratório de Hemoglobinas e Genética das Doenças Hematológicas, Departamento de Biologia, Universidade Estadual Paulista Júlio de Mesquita Filho, São José do Rio Preto, SP, Brasil. giselecristine_bio@yahoo.com.br
authors.forename: G C S
authors.initials: GC
authors.lastname: Carrocini
authors.forename: L S
authors.initials: LS
authors.lastname: Ondei
authors.forename: P J A
authors.initials: PJ
authors.lastname: Zamaro
authors.forename: C R
authors.initials: CR
authors.lastname: Bonini-Domingos
mesh_terms: D000328:Adult; D000349:Africa / Q000208:ethnology; D001938:Brazil / Q000453:epidemiology; D004587:Electrophoresis, Agar Gel; D005260:Female; D005319:Fetal Hemoglobin / Q000235:genetics*; D005914:Globins / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D020033:Protein Isoforms / Q000235:genetics; D017422:Sequence Analysis, DNA; D012802:Sicily / Q000208:ethnology; D013030:Spain / Q000208:ethnology; D017086:beta-Thalassemia / Q000097:blood / Q000208:ethnology / Q000235:genetics*; D055538:delta-Thalassemia / Q000097:blood / Q000208:ethnology / Q000235:genetics*
chemical_list: D020033:Protein Isoforms; D005914:Globins; D005319:Fetal Hemoglobin