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.

摘要

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 betaGlu6Val, and betaAsn139Ser 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.