The Genotypes of α-Thalassemia and Genotypes Frequencies of α-Thalassemia in Hatay

Yıl 2014, Cilt: 3 Sayı: 3, 233 - 236, 01.09.2014

Özgür Aldemir Müzeyyen İzmirli

https://doi.org/10.5505/abantmedj.2014.49358

Öz

OBJECTIVE: α-thalassemia, characterized by a decreased or lack of synthesis of α-globin chains of hemoglobin, is very common disease in the world. α-globin gene is located at the short arm of chromosome 16 16p 13.3 and contains mutations including deletions and single point mutations α3.7, αMED, α COD8 -AA , 1-5nt IVS α2, α2 poly A1 mutations . In this study, we aimed to determine the frequency of α-thalassemia gene mutations in Hatay region. METHODS: To do so, study population who referred to Medical Genetic Department of Mustafa Kemal University, Medical School for either detection of α-thalassemia gene mutations between 2012-2013, 407 individuals with α-thalassemia gene mutations were includud to the study. Molecular screening of the α-globin gene was carried out by an α-globin strip assay Vienna Lab Diagnostics, Vienna, Austria which is based on multiplex PCR Polymerase Chain Reaction for specific amplification.RESULTS: According to this, it has found that the frequencies of α3.7, αMED, α COD8 -AA , 1-5nt IVS α2, α2 poly A1 mutations are 29.48%, 5.16%, 0.25%, 0.25%, 0.25%, respectively.CONCLUSION: Consequently, the frequency of mutation affects ethnic backround and geographic locations. Hatay region also has a unique origin and so, the frequencies of α-thalassemia gene mutations has unique characteristic.

Anahtar Kelimeler

α, -thalassemia, α-globin, Hatay, Turkey

Hataydaki α-Talasemi Genotipleri ve α-Talasemi Genotip Frekansı

Öz

AMAÇ: Dünyada çok yaygın olarak görülen α-talasemi, hemoglobindeki α-globin zincirinin eksikliği ya da azalması ile karakterize olan bir hastalıktır. α-globin geni 16. kromozomun kısa kolu üzerinde 16p 13.3 bulunur ve delesyon ve tek nokta mutasyonu şeklinde α3.7, αMED, α COD8 -AA , α2 IVS 1-5nt, α2 poly A1 mutasyonları mutasyonlar içerir. Biz bu çalışmada Hatay bölgesindeki α-talasemi gen mutasyonlarının frekansını belirlemeyi amaçladık. YÖNTEMLER: Bu amaçla, 2012-2013 tarihleri arasında Mustafa Kemal Üniversitesi, Tıp Fakültesi, Tıbbi Genetik AD’a gelen α-talasemili 407 hasta tarandı. α-globin geninin moleküler analizi multipleks PCR Polimeraz Zincir Reaksiyonu temelli α-globin Strip Assay yöntemi Vienna Lab Diagnostics, Vienna, Austria ile gerçekleştirildi. BULGULAR: Buna göre, bölgemizdeki α3.7, αMED, α COD8 -AA , α2 IVS 1-5nt, α2 poly A1mutasyonlarının frekansları sırası ile %29.48, %5.16, %0.25, %0.25, %0.25 şeklinde bulunmuştur. SONUÇ: Sonuç olarak, mutasyonların görülme sıklığı etnik kökenden ve coğrafik bölgelerden etkilenmektedir. Hatay bölgesi de kendine has bir etnik kökene sahiptir ve bu yüzden α-talasemi gen mutasyonları frekansları da kendine has bir özelliktedir.

Anahtar Kelimeler

α, -talasemi, α-globin, Hatay, Türkiye

Kaynakça

• Harteveld Cornelis L. and Higgs Douglas R. α- thalassaemia. Orhpanet J of Rare Diseases. ;5(13):1-21.
• Higgs DR. The molecular basis of α-thalassaemia. Cold Spring Harb Perspect Med 2013; doi: 1101/cshperspect.a011718.
• Vichinsky EP. Clinical manifestations of α- thalassaemia. Cold Spring Harb Perspect Med 2013; doi: 10.1101/cshperspect.a011742.
• Higgs DR, Vickers MA, Wilkie AO, Pretorius IM, Jarman AP, Weatherall DJ. A review of the molecu- lar genetics of the human α-globin gene cluster. Blood 1989;73:1081-1104.
• Lal A, Goldrich ML, Haines DA, Azimi M, Singer ST, Vichinsky EP. Heterogeneity of hemoglobin H disea- se in childhood. N Engl J Med 2011;364(8):710-8.
• Flint J, Harding RM, Clegg JB, Boyce AJ. Why are some genetic diseases common? Distinguishing selection from other processes by molecular analy- sis of globin gene variants. Hum Genet 1993;91:91
• Flint J, Harding RM, Boyce AJ, Clegg JB. The popu- lation genetics of the haemoglobinopathies. Baillie- res Clin Haematol 1998;11:1-51.
• Celik MM, Gunesacar R, Oktay G, Duran GG, Kaya H. Spectrum of α-thalassemia mutations including first observation of - -(FIL) deletion in Hatay Provin- ce, Turkey. Blood Cells Mol Dis 2013;51(1):27-30.
• Cürük MA. Hb H (Beta4) Disease in Cukurova, Southern Turkey. Hemoglobin 2007;31:265-271.
• Oner C, Gürgey A, Oner R, Balkan H, Gümrük F, Baysal E, Altay C. The molecular basis of Hb H disea- se in Turkey. Hemoglobin 1997;21:41-51.
• Sutcu R, Aylak F, Kocak H, Sipahi T, Vural H, Delibas N. The investigation of distribution of here- ditary alpha-thalassemia mutations in Isparta reser- voir. Eur J Basic Med Sci 2011;1:28-32.
• Siala H, Ouali F, Messaoud T, Bibi A, Fattoum S. α-Thalassaemia in Tunisia: some epidemiological and molecular data. J Genet 2008;87:229-234.
• El-Kalla S, Baysal E. Alpha-thalassemia in the United Arab Emirates, Acta Haematol 1998;100:49
• Hadavi V, Jafroodi M, Hafezi-Nejad N, Mogha- dam SD, Eskandari F, Tarashohi S, Pourfahim H, Oberkanins C, Law HY, Najmabadi H. Alpha- thalassemia mutations in Gilan Province, North Iran. Hemoglobin 2009;33(3):235-41.
• Abu Ghoush MW. Subtypes of alpha thalassemia diagnosed at a Medical Center in Jordan.TAF Prev Med Bull 2008;7:373-376.
• Oron-Karni V, Filon D, Shifrin Y, Fried E, Pogre- bijsky G, Oppenheim A, Rund D. Diversity of alpha- globin mutations and clinical presentation of a- thalassemia in Israel. Am J Hematol 2000;65:196-203.
• Hassan SM, Hamza N, Jaffer Al-Lawatiya F, Jaffer Mohammed A, Harteveld CL, Rajab A, Giordano PC. Extended molecular spectrum of beta- and alphat- halassemia in Oman. Hemoglobin 2010;34:127-134.
• Hellani A, Fadel E, El-Sadadi S, El-Sweilam H, El- Dawood A, Abu-Amero KK. Molecular spectrum of alpha-thalassemia mutations in microcytic hypoch- romic anemia patients from Saudi Arabia. Genet Test Mol Biomarkers 2009;13:219-221.
• Kyriacou K, Kyrri K, Kalogirou E, Vasiliades P, Angastiniotis M, Ioannou PA, Kleanthous M. Hb Bart's levels in cord blood and alpha-thalassemia mutations in Cyprus. Hemoglobin 2000;24:171-180.
• Novelletto A, Hafez M, Di Rienzo A, Felicetti L, Deidda G, el Morsi Z, al-Tonbary Y, el-Ziny M, Abd- el-Gelil N, Terrenato L. Frequency and molecular types of deletional alpha-thalassemia in Egypt. Hum Genet 1989;81(3):211-3.
• Di Bella C, Salpietro C, La Rosa M, Cuppari C, Piraino B, Cutri MR, Rigoli L. Identification of alpha- thalassemia mutations in subjects from Eastern Sicily (Italy) with abnormal hematological indices and normal Hb A2. Ann Hematol 2006;85:829-831.
• Villegas A, Ropero P, González FA, Anguita E, Espinós D. The thalassemia syndromes: molecular characterization in the Spanish population. Hemog- lobin 2001;25:273-283.
• Harteveld KL, Losekoot M, Heister AJ, van der Wielen M, Giordano PC, Bernini LF. Alpha- thalassemia in The Netherlands: a heterogeneous spectrum of both deletions and point mutations. Hum Genet 1997;100:465-471.
• Souza AE, Cardoso GL, Takanashi SY, Guerreiron JF. Alpha-thalassemia (3.7 kb deletion) in a population from the Brazilian Amazon region: Santarém, Pará State. Genet Mol Res ;8:477-481
• Baysal E, Kleanthous M, Bozkurt G, Kyrri A, Kalo- girou E, Angastiniotis M, Ioannou P, Huisman TH. Alpha-thalassaemia in the population of Cyprus. Br J Haematol 1995;89:496-499.