SULM – Schweizerische Union für Labormedizin | Union Suisse de Médecine de Laboratoire | Swiss Union of Laboratory Medicine

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M Hergersberg1 , L Bernasconi1 , A Ohannessian1 , E Benedek1 , S Regenass 1 , R Herklotz1 , A Huber1

1Zentrum für Labormedizin, Kantonsspital Aarau, 5001 Aarau

BACKGROUND: The hemoglobinopathies including the thalassemias are the most common inherited diseases of monogenic origin. They primarily result from mutations in the genes encoding the alpha- and beta-globin chains. It has been estimated that about 7% of the world population are carriers of different globin gene mutations. Diagnosis of anemia in general and thalassemias in particular has since many decades been a focus of the Kantonsspital Aarau laboratory. Over the last 8 years, the analytic panel has been extended to the molecular genetic level, and the molecular biological analysis is being integrated into the differential diagnosis of anemia in our laboratory today. MATERIAL AND METHODS: For ca 2500 blood samples, DNA analysis has been used as a diagnostic tool. The methods used for mutation analysis are polymerase chain reaction (PCR), hybridisation to allele-specific oligonucleotides, denaturing gradient gel electrophoresis (DGGE), restriction-fragment length polymorphism (RFLP), denaturing HPLC (DHPLC), and DNA sequencing. Depending on the results of the hematologic analysis, the alpha-globin gene locus and the beta-globin gene locus were analysed using the methods mentioned above. RESULTS AND CONCLUSIONS: In ca. 1600 samples, 6 different deletion mutations of the alpha-globin locus have been analyzed. A few point mutations of the alpha-globin locus can be identified by RFLP analysis. Vice versa, 20 different point mutations were identified in ca. 350 samples in which the beta-globin gene locus was analysed. DHPLC analysis increases the speed and sensitivity of the mutation analysis considerably. Identification of the mutations in probands with thalassemia on the DNA level is the prerequisite for genetic counselling and prenatal diagnosis. Prenatal diagnosis is performed using a combination of direct mutation analysis as described here and indirect microsatellite analysis.

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