Severity of beta-thalassemia due to genotypes involving the IVS-I-6 (T-->C) mutation.
Among individuals of Mediterranean or Middle Eastern descent, the IVS-I-6 (T-->C) mutation is one of the most common causes of beta-thalassemia. In this report, we describe the clinical phenotypes of a group of beta-thalassemia patients who are compound heterozygotes for the relatively mild IVS-I-6 (T-->C) beta-thalassemia mutation and more severe beta(+)- or beta (0)-thalassemia mutations. Although most of these patients are transfusion-dependent, the requirement for regular transfusions generally occurred late in childhood. A correlation between concomitant alpha-thalassemia and a mild transfusion-independent phenotype is not apparent, indicating the involvement of other ameliorating determinants.
Waye
J S
JS
Provincial Hemoglobinopathy DNA Diagnostic Laboratory, McMaster University Medical Centre, Hamilton, Ontario, Canada.
Eng
B
B
Patterson
M
M
Wasi
P
P
Chui
D H
DH
Francombe
W H
WH
Sher
G D
GD
Olivieri
N F
NF
D000328:Adult; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D005190:Family; D005260:Female; D005914:Globins / Q000235:genetics*; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008297:Male; D017354:Point Mutation; D017086:beta-Thalassemia / Q000453:epidemiology / Q000235:genetics*
D005914:Globins