Article
A new sickling variant 'Hb S-Wake β[(Glu6Val-Asn139 Ser)]' found in a compound heterozygote with Hb S β(Glu6Val) coinherited with homozygous α-thalassemia-2: phenotype and molecular characteristics.
Acta haematologica - 1 Jan 2010
Kutlar Ferdane, Redding-Lallinger R, Meiler S E, Bakanay S M, Borders L, Kutlar A
Abstract excerpt
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 β(S) 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...
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