Beta talasemi major prenatal tanı analizi yapılan üçüz olgu

Beta talasemi, beta globin zincir sentezinin azalması ya da yokluğu ile karakterize olan kalıtsal bir kan hastalığıdır. Türkiye'de önemli bir sağlık sorunu olan beta talasemi hastalığına en sık neden olan mutasyon, HBB geni IVS I-110 (G>A) mutasyonudur. Prenatal tanı işleminde ilk basamak, her iki ebeveynin de taşıyıcı olduğunun genetik analiz ile gösterilmesidir. Hastalığın prenatal tanısında uygulanan yöntem, fetal DNA'nın polimeraz zincir reaksiyonu ile çoğaltılması ve HBB geninin mutasyon analizidir. Biz burada, üçüz gebeliği olan beta talasemi taşıyıcısı anne ve baba ile prenatal tanıda homozigot beta talasemi olduğunu gösterdiğimiz bir fetus ve heterozigot beta talasemi olan iki fetusu sunuyoruz. Hasta fetus için, selektif fetosit işlemi yapıldı. Bu aileyi, ülkemizde taşıyıcılık oranı yüksek olan beta talasemi major hastalığının, moleküler genetik yöntemlerle prenatal tanısının mümkün olduğunu vurgulamak ve üçüz gebelik gibi kompleks olgularda, etkilenmiş fetusların eliminasyonu için izlenen yolu gösterebilmek amacıyla sunuyoruz.

Analysis of prenatal diagnosis of beta thalassemia major in the case of triplets

Beta thalassemia is a hereditary blood disease that is characterized by reduction or absence of beta-globin chain synthesis. The most common mutation, which causes beta thalassemia and is an important health problem in Turkey, was IVS I-110 in the HBB gene. The first step in prenatal diagnosis is to show through genetic analysis that both parents are carriers of the disease. The method for prenatal diagnosis of the disease is multiplying the fetal DNA by making use of the Polymerase-Chain-Reaction and mutation analysis of the HBB gene. Presented in this case study are: father and mother, both carriers of the disease, mother pregnant with triplets, one of the fetuses prenatally diagnosed to have homozygote beta-thalassemia and the other two fetuses with heterozygote beta- thalassemia. The sick fetus has been eliminated through selective feticide. This family is presented in order to emphasize the importance of prenatal diagnosis of beta thalassemia as a major disease, which has a high carrier ratio in our country, through molecular genetic analysis is possible and also to show a way to eliminate sick fetuses in complex cases such as triplet pregnancies.

___

  • 1) Gümrük F. Hemoglobin ve hemoglobinopatiler. In: Iliçin G, Unal S. Biberoğlu K, Akalın HE, Süleymanlar G, (eds). Temel İç Hastalıkları. 1. baskı. Ankara; Güneş Kitabevi Ltd.;1996:1233-43.
  • 2) Kutlu M, Çekmiş H, Başak M, ve ark. Talasemiler. Medical Journal of Bakırköy 2006;2(2):33-40.
  • 3) Thein SL. β-thalassemia. In: Higgs DR, Weatherall DJ, (eds). Bailliere’s Clinical Haematalogy. London; 1993;151-75.
  • 4) Galanello R, Origa R. Orphanet J. Beta-thalassemia. Orphanet J Rare Dis 2010;21(1):5-11.
  • 5) Tadmouri GO, Başak AN. β-thalassemia in Turkey: A review of the clinical epidemiological molecular and evolutionary aspects. Hemoglobin 2001;25(2):227-39.
  • 6) Rund D, Rachmilewitz E. Pathophysiology of α- and β- thalassemia: Therapeutic implications. Sem Hematol 2001;38(4):343-9.
  • 7) Yılmaz B, Balım Z, Özkınay F, ve ark. Beta talasemi mutasyon tiplerinin moleküler analizi. Ege Tıp Dergisi 2000; 39(3):153-7.
  • 8) Tadmouri GO, Tuzmen S, Ozçelik H, et al. Molecular and population genetic analysis of β-thalassemia in Turkey. Am J Hematol 1998;57(3):215-20.
  • 9) Başak AN, Özçelik H, Ozer A, et al. The molecular basis of β-thalassemia in Turkey. Hum Genet 1992;89(3):315-8.
  • 10) Arcasoy A, Canatan D. Dünyada ve Türkiye’de talasemi ve hemoglobinopatiler. In: Arcasoy A, Canatan D, Köse M, Üstündag M (eds). Hemoglobinopati ve Talasemi, Önlem-Tanı-Tedavi. Antalya: Siyah Grafik Matbaacılık Ltd. Sti.; 2002:13-7.
  • 11) Mendilcioglu I, Yakut S, Keser I, Simsek M, Yesilipek A, Bagci G, Luleci G. Prenatal diagnosis of β-thalassemia and other hemoglobinopathies in southwestern Turkey. Hemoglobin 2011;35(1):47-55.
  • 12) Chern SR, Chen CP. Molecular prenatal diagnosis of thalassemia in Taiwan. Int J Gynaecol Obstet 2000;69(2):103-6.
  • 13) Tse KY, Leung WC, Leung KY, et al. Full karyotyping, rapid aneuploidy diagnosis or both when invasive prenatal testing is performed for diagnosis of thalassaemia? Mol Hum Reprod 2006;12(1):55-9.
  • 14) Hruby E, Sassi L, Görbe E, Hupuczi P, Papp Z. The maternal and fetal outcome of 122 triplet pregnancies. Orv Hetil 2007;148(49):2315-28.
  • 15) Rosner F. Pregnancy reduction in Jewish law. J Clin Ethics 1990;1(3):181-6.
  • 16) Qazi G. Obstetric and perinatal outcome of multiple pregnancy. J Coll Physicians Surg Pak 2011;21(3):142-5.
  • 17) Wang XT, Li HY, Feng H, Zuo CT, Chen YQ, Li L, Wu ML. Clinical study of selective multifetal pregnancy reduction in second trimester. Zhonghua Fu Chan Ke Za Zhi 2007;42(3):152-6.
  • 18) Lipitz S, Shulman A, Achiron R, Zalel Y, Seidman DS. Comparative study of multifetal pregnancy reduction from triplets to twins in the first versus early second trimesters after detailed fetal screening. Ultrasound Obstet Gynecol 2001;18(1):35-8.
  • 19) Kadhel P, Olivennes F, Fernandez H, Vial M, Frydman R. Are there still obstetric and perinatal benefits for selective embryo reduction of triplet pregnancies? Hum Reprod 1998;13(12):3555-9.
  • 20) Leondires MP, Ernst SD, Miller BT, Scott RT. Triplets: Outcomes of expectant management versus multifetal reduction for 127 pregnancies. Am J Obstet Gynecol 2000;183(2):454-9.
  • 21) Gül A, Güngördük K, Yıldırım G, Gedikbasi A, Sargin A, Tekirdag AI, Ceylan Y. Bipolar cord coagulation in monochorionic twins discordant for major fetal anomalies. J Turkish German Gynecol Assoc 2008;9(1):24-8.
  • 22) Brambati B, Formigli L, Tului L, Simoni G. Selective reduction of quadruplet pregnancy at risk of beta-thalassaemia. Lancet 1990; 24;336(8726):1325-6.