Evaluation of HPFH and δβ-thalassemia mutations in a Brazilian group with high Hb F levels.

dc.contributorUniversidade Estadual Paulista (UNESP)
dc.creatorCarrocini, G. C.
dc.creatorOndei, L. S.
dc.creatorZamaro, P. J.
dc.creatorBonini-Domingos, C. R.
dc.date2014-05-27T11:26:16Z
dc.date2016-10-25T18:36:00Z
dc.date2014-05-27T11:26:16Z
dc.date2016-10-25T18:36:00Z
dc.date2011-12-01
dc.date.accessioned2017-04-06T01:55:10Z
dc.date.available2017-04-06T01:55:10Z
dc.identifierGenetics and molecular research : GMR, v. 10, n. 4, p. 3213-3219, 2011.
dc.identifier1676-5680
dc.identifierhttp://hdl.handle.net/11449/72922
dc.identifierhttp://acervodigital.unesp.br/handle/11449/72922
dc.identifier10.4238/2011.December.21.3
dc.identifier2-s2.0-84861797600.pdf
dc.identifier2-s2.0-84861797600
dc.identifierhttp://dx.doi.org/10.4238/2011.December.21.3
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/893752
dc.descriptionFetal 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.
dc.languageeng
dc.relationGenetics and molecular research : GMR
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectglobin
dc.subjecthemoglobin F
dc.subjectisoprotein
dc.subjectadult
dc.subjectAfrica
dc.subjectagar gel electrophoresis
dc.subjectbeta thalassemia
dc.subjectblood
dc.subjectBrazil
dc.subjectdelta thalassemia
dc.subjectDNA sequence
dc.subjectethnology
dc.subjectfemale
dc.subjectgenetics
dc.subjectheterozygote
dc.subjecthuman
dc.subjectItaly
dc.subjectmale
dc.subjectmutation
dc.subjectpolymerase chain reaction
dc.subjectSpain
dc.subjectAdult
dc.subjectbeta-Thalassemia
dc.subjectdelta-Thalassemia
dc.subjectElectrophoresis, Agar Gel
dc.subjectFemale
dc.subjectFetal Hemoglobin
dc.subjectGlobins
dc.subjectHeterozygote
dc.subjectHumans
dc.subjectMale
dc.subjectMutation
dc.subjectPolymerase Chain Reaction
dc.subjectProtein Isoforms
dc.subjectSequence Analysis, DNA
dc.subjectSicily
dc.titleEvaluation of HPFH and δβ-thalassemia mutations in a Brazilian group with high Hb F levels.
dc.typeOtro


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