Prenatal diagonsis of Beta-thalassemia in the Antalya province
Prenatal diagonsis of Beta-thalassemia in the Antalya province
Beta-thalassemia and Sickle cell anemia are serious health problems in the Antalya Province of Turkey as well as World Wide. We aimed to summarize data obtained from the prenatal diagnosis for beta-thalassemia and sickle cell anemia of 103 fetuses. All samples were cytogenetically and molecular genetically examined during a period of 4 years. Molecular testing using RDBH and direct DNA sequencing was performed by using amplified DNA from chorionic villi samples at 9-14 weeks of gestation, while mutations in the parents were determined in advance. Cytogenetic analysis was carried out from a primary culture set up. Of the 103 fetuses, 26 were affected; 25 had beta-thalassemia major, and one had HbS/ beta-thalassemia. All of the affected fetuses were theraupatically aborted with the written permission of their parents. VNTR analysis was used to eliminate maternal contamination. IVSI-110 (G-A) was reported as the most frequent allele(50.4%) in all fetuses. Heterozygosity for IVSI-110 was the most prevalent combination. Of the 26 affected fetuses, one was found to have a 46,XY/47,XY,+22 mosaic karyotype. On the other hand, one fetus with normal genotype for beta-globin gene was cytogenetically found to have a 45,X karyotype. As a result, we suggest that for accurate genetic counselling the CV and other samples obtained for molecular prenatal testing of the beta-thalassemia should also be studied to identify possible chromosomal abnormalities.
___
- 1. Weatherall DJ, Clegg JB, Higgs DR et al. The Hemoglobinopathies. The Metabolic and Molecular Bases of Inherited Disease (Eds. CR Scriver, A Beaudet, WS Sly, D Vale), McGraw-Hill. New York, 1989, pp: 3417-3483.
- 2. Sack GH. Autosomal Recessive Disorders. Medical Genetics. McGraw-Hill. New York, 1999, pp: 61-63.
- 3. Thompson MW, Mclnnes RR, Willard HF. Hemoglobinopathies. Genetics in Medicine. W.B.Saunders Company. Philadelphia, 1991, pp: 247-269.
- 4. Bircan 1, Sisli S, Güven A et al. Hemoglobinopathies in the district of Antalya, Turkey. Pediatr Hematol Oncol 10: 289-291, 1993.
- 5. Koçak R, Alpaslan ZN, Agridag G et al. The frequency of anemia, iron deficiency, hemoglobin S, and beta thalassemia in the south of Turkey. Eur J Epidomiol 11: 181-184, 1995.
- 6. Bolaman Z, Enli Y, Koseoglu M et al. Prevalence of Beta Thalasemia trait in Denizli. Turkish j Haem 18:85-88, 2001.
- 7. Çavdar AO, Arcasoy A. Th'e incidence of beta-thalassemia and abnormal hemoglobins in Turkey. Acta Haemotol (Basel) 45: 312, 1971.
- 8. Altay C, Başak AN. Molecular Basis and Prenatal Diagnosis of Hemoglobinopathies in Turkey. Int J Ped Hematology/Oncology 2: 283-290, 1995.
- 9. Guz K, Dedeoglu N, Lüleci G. The frequency and medical effects of consanguineous marriages in Antalya, Turkey. Heriditas 111: 79-83, 1989.
- 10. Sanger F, Coulson AR. A rapid method for determining sequences in DNA by primed synthesis with DNA polymerase. J Mol Biol 94: 441-446, 1975.
- 11. Attila G, Özgünen FT, Çürük A et al. VNTR: application to prenatal diagnosis. Ann Med Sci 6: 96-101, 1997.
- 12. Attila G, Çürük MA, Arpacı A et al. Prenatal diagnosis of hemoglobinopathies in southern Turkey. Ann Med Sci 8:93-97, 1999.
- 13. Keser I, Canatan D, Guzeloglu Kayisli O et al. Beta- thalassemia major associated with Down syndrome. Ann Genet 44: 57-58, 2001.