A scoring system for the classification of beta-thalassemia/Hb E disease severity.
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.
Sripichai
Orapan
O
Thalassemia Research Center, Institute of Science and Technology for Research and Development, Mahidol University, Nakhonpathom, Thailand.
Makarasara
Wattanan
W
Munkongdee
Thongperm
T
Kumkhaek
Chutima
C
Nuchprayoon
Issarang
I
Chuansumrit
Ampaiwan
A
Chuncharunee
Suporn
S
Chantrakoon
Nawarat
N
Boonmongkol
Piathip
P
Winichagoon
Pranee
P
Fucharoen
Suthat
S
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*
D006446:Hemoglobin E