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 βS allele, Hb S βGlu6Val, and βAsn139Ser substitution, i.e. a β-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 α+-thalassemia (–α3.7/–α3.7) simultaneously which resulted in multiple globin gene abnormalities.

Keywords:
Hb S-Wake, Novel β-chain variant, Phenotype/genotype, Sickling disorder, α+-Thalassemia
© 2010 S. Karger AG, Basel
2010
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