Abstract
We report a family in which two siblings are compound heterozygotes for Hb S [β6(A3)Glu→Val] and a rare β-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 β+-thalassemia (β+-thal) allele. This mutation, in compound heterozygosity with Hb S, does not necessarily lead to a mild clinical course.
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