Incidence of β-thalassemia carrier on 1495 couples in preconceptional period
| Autor: | Antonio Malvasi, Elena Pacella, Giancarlo Di Renzo, Antonio Capalbo, Andrea Tinelli, Annunziata Anna Epifania, Domenico Dell’Edera, Maria Brigida Lioi |
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| Rok vydání: | 2012 |
| Předmět: |
Erythrocyte Indices
Male Pathology thalassemia HbA2 levels Thalassemia β-thalassemia carrier Globular resistance of erythrocytes (GRO) Hemoglobin subtypes Blood Cell Count Fetal Hemoglobin Hemoglobin A2 Heterozygote Detection Humans Italy Mutation Osmotic Fragility beta-Globins beta-Thalassemia Preconception Care Pediatrics Perinatology and Child Health Obstetrics and Gynecology Physiology Beta globulins Pediatrics hemic and lymphatic diseases Medicine hba beta thalassemia medicine.diagnostic_test trait Incidence (epidemiology) beta globin Genetic Carrier Screening globin hbf Erythrocyte fragility Complete blood count Beta thalassemia Perinatology and Child Health medicine.medical_specialty preconceptional thalassemia beta thalassemia hba beta thalassemia trait preconceptional gro couple trait mutation cbc globin beta globin globin gene hbf couple Fetal hemoglobin gro cbc business.industry globin gene medicine.disease thalassemia trait beta business |
| Zdroj: | The journal of maternal-fetalneonatal 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. 26(5) |
| ISSN: | 1476-4954 |
| Popis: | 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.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.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.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. |
| Databáze: | OpenAIRE |
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