. 2016; 33(1): 15-20 | DOI: 10.4274/tjh.2014.0197 | |||
Correlation of BACH1 and Hemoglobin E/Beta-Thalassemia Globin ExpressionTze Yan Lee1, Logeswaran Muniandy1, Lai Kuan Teh1, Maha Abdullah1, Elizabeth George2, Jameela Sathar3, Mei I Lai21Universiti Putra Malaysia Faculty of Medicine and Health Sciences, Department of Pathology, Serdang, Malaysia2Universiti Putra Malaysia Faculty of Medicine and Health Sciences, Department of Pathology, Genetic and Regenerative Medicine Research Centre, Serdang, Malaysia 3Ampang Hospital, Clinic of Hematology, Selangor, Malaysia INTRODUCTION: The diverse clinical phenotype of hemoglobin E (HbE)/β- thalassemia has not only confounded clinicians in matters of patient management but has also led scientists to investigate the complex mechanisms involved in maintaining the delicate red cell environment where, even with apparent similarities of α- and β-globin genotypes, the phenotype tells a different story. The BTB and CNC homology 1 (BACH1) protein is known to regulate α- and β-globin gene transcriptions during the terminal differentiation of erythroid cells. With the mutations involved in HbE/β-thalassemia disorder, we studied the role of BACH1 in compensating for the globin chain imbalance, albeit for fine-tuning purposes. BACH1 ve Hemoglobin E/Beta-Talasemi Globin Sunumu KorelasyonuTze Yan Lee1, Logeswaran Muniandy1, Lai Kuan Teh1, Maha Abdullah1, Elizabeth George2, Jameela Sathar3, Mei I Lai21Universiti Putra Malaysia Faculty of Medicine and Health Sciences, Department of Pathology, Serdang, Malaysia2Universiti Putra Malaysia Faculty of Medicine and Health Sciences, Department of Pathology, Genetic and Regenerative Medicine Research Centre, Serdang, Malaysia 3Ampang Hospital, Clinic of Hematology, Selangor, Malaysia GİRİŞ ve AMAÇ: Hemoglobin E (HbE)/β-talaseminin çeşitli klinik fenotipleri klinisyenlerin hasta yönetimi esnasında zihinlerini karıştırmakla kalmamış, α- ve β-globin genotiplerinde bariz benzerlikler varken fenotiplerde farklılıklar bulunduğundan bilim insanlarının hassas eritrosit çevrenin muhafaza edilmesinde yer alan karmaşık mekanizmaları incelemelerine de ön ayak olmuştur. BTB ve CNC homoloji 1 (BACH1) proteininin eritroid hücrelerin son farklılaşması sırasında α- and β-globin gen transkripsiyonlarını ayarladığı bilinmektedir. HbE/β-talasemi hastalığındaki mutasyonlar ile her ne kadar ince ayar amaçlı ise de BACH1’in globin zincir dengesizliğini kompanse etmedeki rolünü inceledik. Tze Yan Lee, Logeswaran Muniandy, Lai Kuan Teh, Maha Abdullah, Elizabeth George, Jameela Sathar, Mei I Lai. Correlation of BACH1 and Hemoglobin E/Beta-Thalassemia Globin Expression. . 2016; 33(1): 15-20 Corresponding Author: Mei I Lai, Malaysia |
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