Document Detail

Incidence of beta thalassemia carrier on 1495 couples in preconceptional period.
MedLine Citation:
PMID:  23039078     Owner:  NLM     Status:  Publisher    
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.
Domenico Dell'edera; Annunziata Anna Epifania; Antonio Malvasi; Elena Pacella; Andrea Tinelli; Antonio Capalbo; Maria Brigida Lioi; Giancarlo Di Renzo
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-10-8
Journal Detail:
Title:  The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians     Volume:  -     ISSN:  1476-4954     ISO Abbreviation:  J. Matern. Fetal. Neonatal. Med.     Publication Date:  2012 Oct 
Date Detail:
Created Date:  2012-10-8     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101136916     Medline TA:  J Matern Fetal Neonatal Med     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Unit of Cytogenetic and Molecular Genetics-"Madonna delle Grazie" Hospital, Matera, Italy.
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