title: Genetic analysis of candidate modifier polymorphisms in Hb E-beta 0-thalassemia patients.
abstract: Hemoglobin E (Hb E)-beta-thalassemia patients display a range of clinical severities, from nearly asymptomatic to transfusion-dependent thalassemia major. Given this clinical heterogeneity, additional genetic factors modifying disease severity remain to be discovered. Association studies are being conducted to elucidate the role of genetic polymorphisms as disease severity modifiers in Hb E-beta-thalassemia patients. Using strict scoring criteria, 1060 Hb E-beta-thalassemia patients were categorized into mild, moderate, and severe groups. Taking a candidate gene approach, we found no statistically significant differences between the mild and severe patients groups in allelic or genotypic frequencies for single nucleotide polymorphisms within five genes known to influence globin gene expression and erythropoiesis.
authors.affiliation: Thalassemia Research Center, Institute of Science and Technology for Research and Development, Mahidol University, Salaya, Phuttamonthon 4 Rd. Phuttamonthon, Nakornpathom 73170, Thailand.
authors.forename: Orapan
authors.initials: O
authors.lastname: Sripichai
authors.forename: Johanna
authors.initials: J
authors.lastname: Whitacre
authors.forename: Thongperm
authors.initials: T
authors.lastname: Munkongdee
authors.forename: Chutima
authors.initials: C
authors.lastname: Kumkhaek
authors.forename: Wattanan
authors.initials: W
authors.lastname: Makarasara
authors.forename: Pranee
authors.initials: P
authors.lastname: Winichagoon
authors.forename: Ken
authors.initials: K
authors.lastname: Abel
authors.forename: Andreas
authors.initials: A
authors.lastname: Braun
authors.forename: Suthat
authors.initials: S
authors.lastname: Fucharoen
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D001798:Blood Proteins / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002681:China / Q000208:ethnology; D004843:Epistasis, Genetic; D004921:Erythropoietin / Q000235:genetics; D005260:Female; D050982:GATA1 Transcription Factor / Q000235:genetics; D005914:Globins / Q000235:genetics*; D006446:Hemoglobin E / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D051741:Kruppel-Like Transcription Factors / Q000235:genetics; D008297:Male; D008875:Middle Aged; D018832:Molecular Chaperones / Q000235:genetics; D050984:NF-E2 Transcription Factor, p45 Subunit / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D017467:Receptors, Erythropoietin / Q000235:genetics; D012720:Severity of Illness Index; D013785:Thailand; D014157:Transcription Factors / Q000235:genetics; D017086:beta-Thalassemia / Q000235:genetics*
chemical_list: C468768:AHSP protein, human; D001798:Blood Proteins; C105304:DLX4 protein, human; D050982:GATA1 Transcription Factor; C494688:GATA1 protein, human; D018398:Homeodomain Proteins; D051741:Kruppel-Like Transcription Factors; D018832:Molecular Chaperones; D050984:NF-E2 Transcription Factor, p45 Subunit; C494692:NFE2 protein, human; D017467:Receptors, Erythropoietin; D014157:Transcription Factors; C080774:erythroid Kruppel-like factor; D004921:Erythropoietin; D005914:Globins; D006446:Hemoglobin E