Abnormal hemoglobins associated with the beta-globin gene in Antalya province, Turkey

Abnormal hemoglobins are the most common hemoglobinopathies after beta-thalassemia in the world. More than 40 abnormal hemoglobin variants have been reported in the Turkish population. Therefore, it is one of the target areas for carrier screening. In our study, we aimed to screen the abnormal hemoglobins that cause clinical thalassemia in the Antalya population. Materials and methods: The present study identified the abnormal hemoglobins associated with the beta-globin gene using different molecular genetic techniques following high performance liquid chromatography (HPLC) results. We studied 972 postnatal and 361 prenatal cases (total: 1333 cases, 2666 chromosomes) with the disorder from 1998 up to July 2008. DNA extraction from peripheral blood, chorionic villi samples (CVS), amniotic cells, and cord blood samples was carried out using standard procedures. Following polymerase chain reaction (PCR) and amplification of the beta-globin gene, allele refractory mutation system (ARMS), reverse dot blot hybridization (RDBH), Nanochip, and DNA sequencing were performed to identify the mutations. Variable number of tandem repeats (VNTR) analysis was used for elimination of maternal contamination in prenatal diagnosis. We identified and characterized abnormal hemoglobin variants with novel and rare beta-thalassemic mutations. Results: Seven different abnormal hemoglobins were found in Antalya province, Turkey, namely Hb Antalya, Hb Tyne, HbS, Hb G-Coushatta, HbE, Hb Knossos, and Hb D-Los Angeles. Conclusion: Some of the abnormal hemoglobin variants found are unstable and some of them cannot be detected by simple electrophoretic examinations. Our findings suggest that abnormal hemoglobins are more frequent than expected among the other abnormal hemoglobins found in Turkey, and it is important both to perform prenatal diagnosis and to give genetic counseling for abnormal hemoglobins to families at risk for thalassemia.

Abnormal hemoglobins associated with the beta-globin gene in Antalya province, Turkey

Abnormal hemoglobins are the most common hemoglobinopathies after beta-thalassemia in the world. More than 40 abnormal hemoglobin variants have been reported in the Turkish population. Therefore, it is one of the target areas for carrier screening. In our study, we aimed to screen the abnormal hemoglobins that cause clinical thalassemia in the Antalya population. Materials and methods: The present study identified the abnormal hemoglobins associated with the beta-globin gene using different molecular genetic techniques following high performance liquid chromatography (HPLC) results. We studied 972 postnatal and 361 prenatal cases (total: 1333 cases, 2666 chromosomes) with the disorder from 1998 up to July 2008. DNA extraction from peripheral blood, chorionic villi samples (CVS), amniotic cells, and cord blood samples was carried out using standard procedures. Following polymerase chain reaction (PCR) and amplification of the beta-globin gene, allele refractory mutation system (ARMS), reverse dot blot hybridization (RDBH), Nanochip, and DNA sequencing were performed to identify the mutations. Variable number of tandem repeats (VNTR) analysis was used for elimination of maternal contamination in prenatal diagnosis. We identified and characterized abnormal hemoglobin variants with novel and rare beta-thalassemic mutations. Results: Seven different abnormal hemoglobins were found in Antalya province, Turkey, namely Hb Antalya, Hb Tyne, HbS, Hb G-Coushatta, HbE, Hb Knossos, and Hb D-Los Angeles. Conclusion: Some of the abnormal hemoglobin variants found are unstable and some of them cannot be detected by simple electrophoretic examinations. Our findings suggest that abnormal hemoglobins are more frequent than expected among the other abnormal hemoglobins found in Turkey, and it is important both to perform prenatal diagnosis and to give genetic counseling for abnormal hemoglobins to families at risk for thalassemia.

Kaynakça

Sanger F, Coulson AR: A rapid method for determining sequences in DNA by primed synthesis with DNA polymerase. J Mol Biol 1975; 94: 441-46.

Keser I, Manguoglu E, Guzeloglu-Kayisli O, Kurt F, Mendilcioglu I, Simsek M et al. Prenatal diagnosis of beta- thalassemia in Antalya province. Turk J Med Sci 2005: 35: 251- 3.

Keser I, Kayisli OG, Yesilipek A, Ozes N, Luleci G. Hb Antalya: a new unstable variant leading to chronic microcytic anemia and high HbA2. Hemoglobin 2001; 25: 369-73.

Altay C, Gurgey A. Distribution of hemoglobinopathies in Turkey. Turkish J Pediatr 1986; 28: 219-29.

Aluoch JR, Kılınç Y, Aksoy M, Yuregir GT, Bakioglu I, Kutlar A et al. Sickle cell anemia among Eti-Turks: Haematological, clinical and genetics observations. Br J Haematol 1986; 64: 45- 55.

Langdown JV, Williamson D, Beresford CH, Gibb I, Taylor R, Deacon-Smith R. A new beta chain variant, Hb Tyne [beta 5 (A2)Pro→Ser]. Hemoglobin 1994; 18 (4-5): 333-6.

Guzeloglu Kayisli O, Keser I, Canatan D, Sanlıoglu A, Ozes ON, Yesilipek A et al. Compound heterozygosity for two beta chain variants: The mildly unstable Hb Tyne [CODON 5 Pro→Ser] and Hb S [CODON 6Glu→Val]. Turk J Haematol 2005; 22(1): 37-40.

El-Hashemite N, Petrou M, Khalifa AS, Heshmat NM, Rady MS, Delhanty JD. Identification of novel Asian Indian and Japanese mutations causing Beta-thalassemia in the Egyptian population. Hum.Genet 1997; 99: 271-4.

Sargin CF, Nal N, Manguoglu AE, Keser I, Mendilcioglu I, Yesilipek A et al. The Phenotypic effect of Hb G-Coushatta [B22 (B4) Glu—Ala] and Association with IVS.II.1(G-A) In a Turkish Family. Genetic Counseling 2005; 16(3): 307-8.

Weatherall DJ. Introduction to the problem of hemoglobin EB thalassemia. J Pediatr Hematol Oncol 2000; 22: 551.

Fessas PH, Loukopoulos D, Loutradi-Anagnostou A, Komis G: “Silent” P-thalassemia caused by a “silent” P-chain mutant: The pathogenesis of a syndrome of thalassemia intermedia. Br J Haematol 1982; 51: 577.

Keser I, Manguoglu E, Kayisli O, Yesilipek A, Luleci G. Combination of Hb Knossos [Cod 27 (G-T)] and IVSII-745 (C- G) in a Turkish Patient with Beta-Thalassemia Major. Genetic Testing 2007;11(3): 228-30.

Ozsoylu S. Homozygous hemoglobin D Punjab. Acta Haematol 1970; 43: 353-9.

Rahimi Z, Muniz A, Mozafari H. Abnormal hemoglobins among Kurdish population of Western Iran: hematological and molecular features. Mol Biol Rep. 2009 Mar 31.

Siala H, Ouali F, Messaoud T, Bibi A, Fattoum S. alpha- Thalassaemia in Tunisia: some epidemiological and molecular data. J Genet. 2008; 87: 229-34.

Kaynak Göster

Bibtex @ { tbtkmedical147447, journal = {Turkish Journal of Medical Sciences}, issn = {1300-0144}, eissn = {1303-6165}, address = {}, publisher = {TÜBİTAK}, year = {2010}, volume = {40}, pages = {127 - 131}, doi = {}, title = {Abnormal hemoglobins associated with the beta-globin gene in Antalya province, Turkey}, key = {cite}, author = {Keser, İbrahim and Yeşilipek, Akif and Canatan, Duran and Lüleci, Güven} }
APA Keser, İ , Yeşilipek, A , Canatan, D , Lüleci, G . (2010). Abnormal hemoglobins associated with the beta-globin gene in Antalya province, Turkey . Turkish Journal of Medical Sciences , 40 (1) , 127-131 .
MLA Keser, İ , Yeşilipek, A , Canatan, D , Lüleci, G . "Abnormal hemoglobins associated with the beta-globin gene in Antalya province, Turkey" . Turkish Journal of Medical Sciences 40 (2010 ): 127-131 <
Chicago Keser, İ , Yeşilipek, A , Canatan, D , Lüleci, G . "Abnormal hemoglobins associated with the beta-globin gene in Antalya province, Turkey". Turkish Journal of Medical Sciences 40 (2010 ): 127-131
RIS TY - JOUR T1 - Abnormal hemoglobins associated with the beta-globin gene in Antalya province, Turkey AU - İbrahim Keser , Akif Yeşilipek , Duran Canatan , Güven Lüleci Y1 - 2010 PY - 2010 N1 - DO - T2 - Turkish Journal of Medical Sciences JF - Journal JO - JOR SP - 127 EP - 131 VL - 40 IS - 1 SN - 1300-0144-1303-6165 M3 - UR - Y2 - 2021 ER -
EndNote %0 Turkish Journal of Medical Sciences Abnormal hemoglobins associated with the beta-globin gene in Antalya province, Turkey %A İbrahim Keser , Akif Yeşilipek , Duran Canatan , Güven Lüleci %T Abnormal hemoglobins associated with the beta-globin gene in Antalya province, Turkey %D 2010 %J Turkish Journal of Medical Sciences %P 1300-0144-1303-6165 %V 40 %N 1 %R %U
ISNAD Keser, İbrahim , Yeşilipek, Akif , Canatan, Duran , Lüleci, Güven . "Abnormal hemoglobins associated with the beta-globin gene in Antalya province, Turkey". Turkish Journal of Medical Sciences 40 / 1 (Ocak 2010): 127-131 .
AMA Keser İ , Yeşilipek A , Canatan D , Lüleci G . Abnormal hemoglobins associated with the beta-globin gene in Antalya province, Turkey. Turkish Journal of Medical Sciences. 2010; 40(1): 127-131.
Vancouver Keser İ , Yeşilipek A , Canatan D , Lüleci G . Abnormal hemoglobins associated with the beta-globin gene in Antalya province, Turkey. Turkish Journal of Medical Sciences. 2010; 40(1): 127-131.
IEEE İ. Keser , A. Yeşilipek , D. Canatan ve G. Lüleci , "Abnormal hemoglobins associated with the beta-globin gene in Antalya province, Turkey", Turkish Journal of Medical Sciences, c. 40, sayı. 1, ss. 127-131, Oca. 2010
  • ISSN: 1300-0144
  • Yayın Aralığı: Yılda 6 Sayı
  • Yayıncı: TÜBİTAK

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