Fetal hemoglobin altering effects of KLF1, BCL11A rs11886868 and XmnI-HBG2 on transfusion dependent beta thalassemia patients: Preeliminary study

Oğuz Yolcular, Başak; Keser, Ibrahim; arikan, yunus; Kurtoglu, Erdal

doi:10.5455/annalsmedres.2023.02.059

Fetal hemoglobin altering effects of KLF1, BCL11A rs11886868 and XmnI-HBG2 on transfusion dependent beta thalassemia patients: Preeliminary study

Yunus ARIKAN, (Yozgat Bozok Üniversitesi, Tıp Fakültesi, Tıbbi Genetik Anabilim Dalı, Yozgat, Türkiye)

Başak OĞUZ YOLCULAR, (Antalya Akdeniz Üniversitesi, Tıp Fakültesi, Biyoistatistik Anabilim Dalı, Antalya, Türkiye)

Erdal KURTOĞLU, (Antalya Eğitim ve Araştırma Hastanesi, Hematoloji Kliniği, Antalya, Türkiye)

Ibrahim KESER (Antalya Akdeniz Üniversitesi, Tıp Fakültesi, Tıbbi Biyoloji ve Genetik Anabilim Dalı, Antalya, Türkiye)

Annals of Medical Research

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Yıl: 2023 Cilt: 30 Sayı: 5 Sayfa Aralığı: 598 - 603 Metin Dili: İngilizce DOI: 10.5455/annalsmedres.2023.02.059 İndeks Tarihi: 06-06-2023

Fetal hemoglobin altering effects of KLF1, BCL11A rs11886868 and XmnI-HBG2 on transfusion dependent beta thalassemia patients: Preeliminary study

Öz:

Aim: High fetal hemoglobin value is one of the quantitative trait in beta thalassemia and may effect transfusion dependency status of beta thalassemia cases. There are populationbased differences about known genetic modifiers of different fetal hemoglobin values. We aimed to find if high fetal hemoglobin value are caused by XmnI-HBG2 polymorphism, rs11886868 of BCL11A or KLF1 whole gene mutations. Materials and Methods: Genotyping procedure of thirty well re-defined and characterized transfusion dependent beta thalassemia patients was conducted via either sanger sequencing or and PCR-RFLP. Statistical analysis of groups and multiple logistic regression analysis of related genotypes were performed. Results: We found strong correlations between transfusion dependency and fetal hemoglobin levels (p<0.05). IVS.I.110 (G>A) homozygous mutation was found to be predominant in HBB gene. Lower fetal hemoglobin levels were seen in IVS.I.110 (G>A) homozygous group (p<0.05). Total count of variations among the three modifier genes BCL11A polymorphism was leading first. We did not observe any statistically significant relationship in patients with beta thalassemia major patients who have high fetal hemoglobin values between three modifiers group (p>0.05). Conclusion: This is the first research report from Turkey in terms of 3 different modifiers were analyzed and evaluated. Since some cases have more than one variations in these three modifiers, involving higher sample size may overcome this challenge. Other genomic alterations rather than XmnI-HBG2, variations of BCL11A rs11886868 and mutation profile of KLF1 gene, which could decrease or abolish the effect of gamma globin repressors, may have more direct role with high fetal hemoglobin levels in patients with transfusion dependent beta thalassemia in Turkey.

Anahtar Kelime:

Belge Türü: Makale Makale Türü: Araştırma Makalesi Erişim Türü: Erişime Açık

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APA	arikan y, Oğuz Yolcular B, Kurtoglu E, Keser I (2023). Fetal hemoglobin altering effects of KLF1, BCL11A rs11886868 and XmnI-HBG2 on transfusion dependent beta thalassemia patients: Preeliminary study. , 598 - 603. 10.5455/annalsmedres.2023.02.059
Chicago	arikan yunus,Oğuz Yolcular Başak,Kurtoglu Erdal,Keser Ibrahim Fetal hemoglobin altering effects of KLF1, BCL11A rs11886868 and XmnI-HBG2 on transfusion dependent beta thalassemia patients: Preeliminary study. (2023): 598 - 603. 10.5455/annalsmedres.2023.02.059
MLA	arikan yunus,Oğuz Yolcular Başak,Kurtoglu Erdal,Keser Ibrahim Fetal hemoglobin altering effects of KLF1, BCL11A rs11886868 and XmnI-HBG2 on transfusion dependent beta thalassemia patients: Preeliminary study. , 2023, ss.598 - 603. 10.5455/annalsmedres.2023.02.059
AMA	arikan y,Oğuz Yolcular B,Kurtoglu E,Keser I Fetal hemoglobin altering effects of KLF1, BCL11A rs11886868 and XmnI-HBG2 on transfusion dependent beta thalassemia patients: Preeliminary study. . 2023; 598 - 603. 10.5455/annalsmedres.2023.02.059
Vancouver	arikan y,Oğuz Yolcular B,Kurtoglu E,Keser I Fetal hemoglobin altering effects of KLF1, BCL11A rs11886868 and XmnI-HBG2 on transfusion dependent beta thalassemia patients: Preeliminary study. . 2023; 598 - 603. 10.5455/annalsmedres.2023.02.059
IEEE	arikan y,Oğuz Yolcular B,Kurtoglu E,Keser I "Fetal hemoglobin altering effects of KLF1, BCL11A rs11886868 and XmnI-HBG2 on transfusion dependent beta thalassemia patients: Preeliminary study." , ss.598 - 603, 2023. 10.5455/annalsmedres.2023.02.059
ISNAD	arikan, yunus vd. "Fetal hemoglobin altering effects of KLF1, BCL11A rs11886868 and XmnI-HBG2 on transfusion dependent beta thalassemia patients: Preeliminary study". (2023), 598-603. https://doi.org/10.5455/annalsmedres.2023.02.059

APA	arikan y, Oğuz Yolcular B, Kurtoglu E, Keser I (2023). Fetal hemoglobin altering effects of KLF1, BCL11A rs11886868 and XmnI-HBG2 on transfusion dependent beta thalassemia patients: Preeliminary study. Annals of Medical Research, 30(5), 598 - 603. 10.5455/annalsmedres.2023.02.059
Chicago	arikan yunus,Oğuz Yolcular Başak,Kurtoglu Erdal,Keser Ibrahim Fetal hemoglobin altering effects of KLF1, BCL11A rs11886868 and XmnI-HBG2 on transfusion dependent beta thalassemia patients: Preeliminary study. Annals of Medical Research 30, no.5 (2023): 598 - 603. 10.5455/annalsmedres.2023.02.059
MLA	arikan yunus,Oğuz Yolcular Başak,Kurtoglu Erdal,Keser Ibrahim Fetal hemoglobin altering effects of KLF1, BCL11A rs11886868 and XmnI-HBG2 on transfusion dependent beta thalassemia patients: Preeliminary study. Annals of Medical Research, vol.30, no.5, 2023, ss.598 - 603. 10.5455/annalsmedres.2023.02.059
AMA	arikan y,Oğuz Yolcular B,Kurtoglu E,Keser I Fetal hemoglobin altering effects of KLF1, BCL11A rs11886868 and XmnI-HBG2 on transfusion dependent beta thalassemia patients: Preeliminary study. Annals of Medical Research. 2023; 30(5): 598 - 603. 10.5455/annalsmedres.2023.02.059
Vancouver	arikan y,Oğuz Yolcular B,Kurtoglu E,Keser I Fetal hemoglobin altering effects of KLF1, BCL11A rs11886868 and XmnI-HBG2 on transfusion dependent beta thalassemia patients: Preeliminary study. Annals of Medical Research. 2023; 30(5): 598 - 603. 10.5455/annalsmedres.2023.02.059
IEEE	arikan y,Oğuz Yolcular B,Kurtoglu E,Keser I "Fetal hemoglobin altering effects of KLF1, BCL11A rs11886868 and XmnI-HBG2 on transfusion dependent beta thalassemia patients: Preeliminary study." Annals of Medical Research, 30, ss.598 - 603, 2023. 10.5455/annalsmedres.2023.02.059
ISNAD	arikan, yunus vd. "Fetal hemoglobin altering effects of KLF1, BCL11A rs11886868 and XmnI-HBG2 on transfusion dependent beta thalassemia patients: Preeliminary study". Annals of Medical Research 30/5 (2023), 598-603. https://doi.org/10.5455/annalsmedres.2023.02.059