title: Incidence of β-thalassemia carrier on 1495 couples in preconceptional period.
abstract: OBJECTIVE
  This research, conducted on 1495 couples in preconceptional period, demonstrates how the study of globular resistance of erythrocytes (GRO) is not a first choice test and not useful as other more accurate tests to identify subjects with β-thalassemia trait. Instead, the complete blood count (CBC) and the evaluation of HbA, HbA2 and HbF by high pressure liquid chromatography (HPLC) are essential.
  
  
  METHODS
  Each couple arrived in our laboratory to screen for β thalassemia. In case of patients with positive (240) or doubtful (112) results, we studied β-globin gene.
  
  
  RESULTS
  Of the 2990 subjects examined, we found 280 subjects with β-thalassemia trait (9.36%). During biochemical tests, among 112 subjects with doubtful--normal GRO or altered GRO--results, 40 of them resulted positive for the molecular analysis, while 72 of them did not show mutations in β-globin genes. The 2710 samples with non-carriers of β-thalassemia trait presented as mean evaluation of HbA2 2.6%, while the 280 subjects with β-thalassemia trait presented as mean evaluation of HbA2 4.8%. Molecular study showed that the β thalassemia phenotype is caused by a small number of mutations, whose regional distribution is typical.
  
  
  CONCLUSIONS
  In the presence of thalassemic parameters in the CBC, the accurate and precise quantification of hemoglobin HbA2 is essential for the diagnosis of β-thalassemia trait. DNA mutation analysis provides the most effective way to detect primary gene mutations. The mutations identified in this work can be identified with a simple and inexpensive kit. This means, in economic terms, a significant savings for health spending.
authors.affiliation: Unit of Cytogenetic and Molecular Genetics, Madonna delle Grazie Hospital, Matera, Italy. domenicodelledera68@gmail.com
authors.forename: Domenico
authors.initials: D
authors.lastname: Dell'Edera
authors.forename: Annunziata Anna
authors.initials: AA
authors.lastname: Epifania
authors.forename: Antonio
authors.initials: A
authors.lastname: Malvasi
authors.forename: Elena
authors.initials: E
authors.lastname: Pacella
authors.forename: Andrea
authors.initials: A
authors.lastname: Tinelli
authors.forename: Antonio
authors.initials: A
authors.lastname: Capalbo
authors.forename: Maria Brigida
authors.initials: MB
authors.lastname: Lioi
authors.forename: Giancarlo
authors.initials: G
authors.lastname: Di Renzo
mesh_terms: D001772:Blood Cell Count; D004909:Erythrocyte Indices; D005319:Fetal Hemoglobin / Q000032:analysis; D006580:Genetic Carrier Screening / Q000379:methods*; D006443:Hemoglobin A2 / Q000032:analysis*; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008297:Male; D009154:Mutation; D009996:Osmotic Fragility; D016742:Preconception Care; D055544:beta-Globins / Q000235:genetics; D017086:beta-Thalassemia / Q000097:blood / Q000453:epidemiology / Q000235:genetics*
chemical_list: D055544:beta-Globins; D006443:Hemoglobin A2; D005319:Fetal Hemoglobin