title: Identification of patients with defects in the globin genes.
abstract: BACKGROUND
  hemoglobinopathies constitute a major health problem worldwide. These disorders are characterized by a clinical and hematological phenotypic heterogeneity. The increase of HbA2 is an invaluable hematological marker of the beta-thalassemia heterozygosis and of double heterozygosis for the alleles of delta and alpha globin genes or for the alleles of delta and beta globin genes which can cause the increase of HbA2 up to normal or borderline values.
  
  
  METHODS
  we report the case of a 30-year-old woman (first pregnant) who was admitted to our Unit at 12 weeks for a screening for thalassemia. The outcomes of the biochemical and haematological exams (MCV, MCH, HbA2, HbF) highlighted that the patient was a carrier of a beta-thalassemic trait. Molecular analysis of the beta globin genes highlighted a β(0)39C>T heterozygous mutation. Biochemical and hematological parameters of the husband (MCV, MCH, HbA2, HbF) were normal except for the level of HbA2 (3,6%). The molecular analysis of the beta globin genes highlighted a IVS2 nt844 C>G heterozygous mutation. Furthermore, the heterozygous mutation δ(+)cod.27G>T was detected in his δ globin gene. For this reason, he was diagnosed a δ+β Thal.
  
  
  CONCLUSIONS
  the aim of this paper is to highlight that biochemical diagnosis could not exhaustive and a molecular diagnostic widening is required to detect the genetic deficiency causing the thalassemic trait.
authors.affiliation: Unit of cytogenetic and molecular genetics, "Madonna delle Grazie" Hospital, Matera, Italy.
authors.forename: Domenico
authors.initials: D
authors.lastname: Dell'edera
authors.affiliation: Unit of Clinical Chemistry, "Madonna delle Grazie" Hospital, Matera, Italy.
authors.forename: Annunziata Anna
authors.initials: AA
authors.lastname: Epifania
authors.affiliation: S'Andrea Hospital, Sapienza University, Rome, Italy.
authors.forename: Giusi Natalia
authors.initials: GN
authors.lastname: Milazzo
authors.affiliation: Unit of cytogenetic and molecular genetics, "Madonna delle Grazie" Hospital, Matera, Italy.
authors.forename: Manuela
authors.initials: M
authors.lastname: Leo
authors.affiliation: Unit of cytogenetic and molecular genetics, "Madonna delle Grazie" Hospital, Matera, Italy.
authors.forename: Carmela
authors.initials: C
authors.lastname: Santacesaria
authors.affiliation: Unit of cytogenetic and molecular genetics, "Madonna delle Grazie" Hospital, Matera, Italy.
authors.forename: Arianna
authors.initials: A
authors.lastname: Allegretti
authors.affiliation: Unit of cytogenetic and molecular genetics, "Madonna delle Grazie" Hospital, Matera, Italy.
authors.forename: Eleonora
authors.initials: E
authors.lastname: Mazzone
authors.affiliation: Obstetrics and Gynecology Department, "Madonna delle Grazie" Hospital, Matera, Italy.
authors.forename: Paolo
authors.initials: P
authors.lastname: Panetta
authors.affiliation: Obstetrics and Gynecology Department, Castellaneta Hospital, Taranto, Italy.
authors.forename: Giovanna
authors.initials: G
authors.lastname: Iammarino
authors.affiliation: Unit of cytogenetic and molecular genetics, "Madonna delle Grazie" Hospital, Matera, Italy.
authors.forename: Maria Giovanna
authors.initials: MG
authors.lastname: Lupo
authors.affiliation: Department of Biotechnology, University of Basilicata, Potenza, Italy.
authors.forename: Rocchina
authors.initials: R
authors.lastname: Barbieri
authors.affiliation: Department of Biotechnology, University of Basilicata, Potenza, Italy.
authors.forename: Maria Brigida
authors.initials: MB
authors.lastname: Lioi
keywords: HbA2 borderline; carrier screening; prenatal diagnosis; β-thalassemia