Incidence of beta thalassemia carrier on 1495 couples in preconceptional period.

Abstract Objective: This paper, 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 beta 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 beta thalassemia. In case of patients with positive (240) or doubtful (112) results, we studied beta globin gene. Results: Of the 2990 subjects examined, we found 280 subjects with beta-thalassemia trait (9,36%). During biochemical tests, among 112 subjects resulted doubtful (GRO normal or altered); 40 of them resulted positive for the molecular analysis, while 72 of them didn't show mutations in beta globin genes. The 2710 samples non-carriers of beta thalassemia trait, presented as mean evaluation of HbA2 2,6%, while the 280 subjects with beta 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 mutation, whose regional distribution is typically. 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 in which 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.