title: 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.
abstract: 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 disease. He had coinherited homozygous α(+)-thalassemia (-α(3.7)/-α(3.7)) simultaneously which resulted in multiple globin gene abnormalities.
authors.affiliation: Sickle Cell Center, Medical College of Georgia, Augusta, GA 30912, USA. fkutlar@mcg.edu
authors.forename: Ferdane
authors.initials: F
authors.lastname: Kutlar
authors.forename: R
authors.initials: R
authors.lastname: Redding-Lallinger
authors.forename: S E
authors.initials: SE
authors.lastname: Meiler
authors.forename: S M
authors.initials: SM
authors.lastname: Bakanay
authors.forename: L
authors.initials: L
authors.lastname: Borders
authors.forename: A
authors.initials: A
authors.lastname: Kutlar
mesh_terms: D000293:Adolescent; D000755:Anemia, Sickle Cell / Q000150:complications* / Q000235:genetics*; D001483:Base Sequence; D014644:Genetic Variation; D006451:Hemoglobin, Sickle / Q000737:chemistry / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D010641:Phenotype; D017434:Protein Structure, Tertiary; D017085:alpha-Thalassemia / Q000150:complications* / Q000235:genetics*
chemical_list: D006451:Hemoglobin, Sickle