title: Correlation of BACH1 and Hemoglobin E/Beta-Thalassemia Globin Expression.
abstract: OBJECTIVE
  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.
  
  
  METHODS
  A total of 47 HbE/β-thalassemia samples were analyzed using real-time quantitative polymerase chain reaction and correlated with age, sex, red blood cell parameters, globin gene expressions, and some clinical data.
  
  
  RESULTS
  The BACH1 expression among the β-thalassemia intermedia patients varied by up to 2-log differences and was positively correlated to age; α-, β-, and γ-globin gene expression level; and heme oxygenase 1 protein. BACH1 was also negatively correlated to reticulocyte level and had a significant correlation with splenectomy.
  
  
  CONCLUSIONS
  This study indicates that the expression of BACH1 could be elevated as a compensatory mechanism to decrease the globin chain imbalance as well as to reduce the oxidative stress found in HbE/β-thalassemia.
authors.forename: Tze Yan
authors.initials: TY
authors.lastname: Lee
authors.forename: Logeswaran
authors.initials: L
authors.lastname: Muniandy
authors.forename: Lai Kuan
authors.initials: LK
authors.lastname: Teh
authors.forename: Maha
authors.initials: M
authors.lastname: Abdullah
authors.forename: Elizabeth
authors.initials: E
authors.lastname: George
authors.forename: Jameela
authors.initials: J
authors.lastname: Sathar
authors.affiliation: Universiti Putra Malaysia Faculty of Medicine and Health Sciences, Department of Pathology, Serdang, Malaysia. E-mail: lmi@upm.edu.my.
authors.forename: Mei I
authors.initials: MI
authors.lastname: Lai
mesh_terms: D000222:Adaptation, Physiological / Q000235:genetics; D000328:Adult; D050976:Basic-Leucine Zipper Transcription Factors / Q000096:biosynthesis / Q000235:genetics*; D002681:China / Q000208:ethnology; D004920:Erythropoiesis / Q000235:genetics; D051856:Fanconi Anemia Complementation Group Proteins / Q000096:biosynthesis / Q000235:genetics*; D005260:Female; D005786:Gene Expression Regulation; D005838:Genotype; D005914:Globins / Q000096:biosynthesis / Q000235:genetics*; D006418:Heme / Q000502:physiology; D051547:Heme Oxygenase-1 / Q000096:biosynthesis / Q000235:genetics; D006446:Hemoglobin E / Q000096:biosynthesis / Q000235:genetics*; D006456:Hemoglobinuria / Q000453:epidemiology / Q000235:genetics / Q000378:metabolism; D006706:Homeostasis; D006801:Humans; D008296:Malaysia / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D018384:Oxidative Stress; D012333:RNA, Messenger / Q000097:blood / Q000235:genetics; D012156:Reticulocytes / Q000378:metabolism; D055815:Young Adult; D017086:beta-Thalassemia / Q000453:epidemiology / Q000235:genetics* / Q000378:metabolism
chemical_list: C102108:BACH1 protein, human; D050976:Basic-Leucine Zipper Transcription Factors; D051856:Fanconi Anemia Complementation Group Proteins; D012333:RNA, Messenger; D006418:Heme; D005914:Globins; D006446:Hemoglobin E; C496541:HMOX1 protein, human; D051547:Heme Oxygenase-1