THE Hb S/beta+ -thalassemia phenotype demonstrates that the IVS-I (-2) (A>C) mutation is a mild beta-thalassemia allele.
We report a family in which two siblings are compound heterozygotes for Hb S [beta6(A3)GluVal] and a rare beta-globin mutation [IVS-I (-2) (A>C)]. Both patients had significant levels of Hb A, indicating that the IVS-I (-2) mutation is a relatively mild beta(+)-thalassemia (beta(+)-thal) allele. This mutation, in compound heterozygosity with Hb S, does not necessarily lead to a mild clinical course.
Schmugge
Markus
M
Department of Haematology, University Children's Hospital, Zürich, Switzerland.
Waye
John S
JS
Basran
Raveen K
RK
Zurbriggen
Karin
K
Frischknecht
Hannes
H
D000328:Adult; D000483:Alleles; D005260:Female; D006451:Hemoglobin, Sickle / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D017354:Point Mutation; D022821:RNA Splice Sites / Q000235:genetics*; D035781:Siblings; D017086:beta-Thalassemia / Q000235:genetics*
D006451:Hemoglobin, Sickle; D022821:RNA Splice Sites