title: A scoring system for the classification of beta-thalassemia/Hb E disease severity.
abstract: Beta-thalassemia intermediate patients show a remarkable clinical heterogeneity. We examined the phenotypic diversity of 950 beta-thalassemia/Hb E patients in an attempt to construct a system for classifying disease severity. A novel scoring system based on six independent parameters, hemoglobin level, age at disease presentation, age at receiving first blood transfusion, requirement for transfusion, spleen size, and growth and development, was able to separate patients into three distinctive severity categories: mild, moderate, and severe courses. This system, therefore, can increase the accuracy of studies of genotype-phenotype interactions and facilitate decisions for appropriate patient management.
authors.affiliation: Thalassemia Research Center, Institute of Science and Technology for Research and Development, Mahidol University, Nakhonpathom, Thailand.
authors.forename: Orapan
authors.initials: O
authors.lastname: Sripichai
authors.forename: Wattanan
authors.initials: W
authors.lastname: Makarasara
authors.forename: Thongperm
authors.initials: T
authors.lastname: Munkongdee
authors.forename: Chutima
authors.initials: C
authors.lastname: Kumkhaek
authors.forename: Issarang
authors.initials: I
authors.lastname: Nuchprayoon
authors.forename: Ampaiwan
authors.initials: A
authors.lastname: Chuansumrit
authors.forename: Suporn
authors.initials: S
authors.lastname: Chuncharunee
authors.forename: Nawarat
authors.initials: N
authors.lastname: Chantrakoon
authors.forename: Piathip
authors.initials: P
authors.lastname: Boonmongkol
authors.forename: Pranee
authors.initials: P
authors.lastname: Winichagoon
authors.forename: Suthat
authors.initials: S
authors.lastname: Fucharoen
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D005260:Female; D005838:Genotype; D006446:Hemoglobin E; D006453:Hemoglobinopathies / Q000175:diagnosis*; D006801:Humans; D008297:Male; D010641:Phenotype; D012720:Severity of Illness Index; D013223:Statistics as Topic; D017086:beta-Thalassemia / Q000175:diagnosis*
chemical_list: D006446:Hemoglobin E