A New Sickling Variant 'Hb S-Wake Beta[(Glu6val-Asn139 Ser)]' Found In A Compound Heterozygote With Hb S Beta(Glu6val) Coinherited With Homozygous Alpha-Thalassemia-2: Phenotype And Molecular Characteristics

We report the case of a 14-year-old African-American boy who was diagnosed with sickle cell disease. Laboratory tests showed that the patient was a compound heterozygote for a novel Hb variant with a double mutation detected on beta(S) allele, Hb S beta Glu6Val, and beta Asn139Ser substitution, i.e. a beta-chain variant named 'Hb S-Wake'. The patient also carried a single Hb S mutation in trans allele, leading to Hb SS-Wake disease. He had coinherited homozygous alpha(+)-thalassemia (-alpha(3.7)/-alpha(3.7)) simultaneously which resulted in multiple globin gene abnormalities. Copyright (c) 2010 S. Karger AG, Basel