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

F. Kutlar, R. Redding-Lallinger, S. E. Meiler, S. M. Bakanay, L. Borders, A. Kutlar

Research output: Contribution to journalArticle

2 Scopus citations

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 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.

Original languageEnglish (US)
Pages (from-to)120-124
Number of pages5
JournalActa Haematologica
Volume124
Issue number2
DOIs
StatePublished - Oct 1 2010

Keywords

  • Hb S-Wake
  • Novel β-chain variant
  • Phenotype/genotype
  • Sickling disorder
  • α-Thalassemia

ASJC Scopus subject areas

  • Hematology

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