title: Sickle cell/β0-thalassemia associated with the 1393 bp deletion can be associated with a severe phenotype.
abstract: In patients who have inherited both the sickle cell gene and the β-thalassemia (β-thal) gene, the nature of the β-thal mutation will impact on the disease phenotype. The β-thal mutation caused by the 1393 bp deletion has previously been described as having a mild clinical phenotype when inherited with the sickle gene. We describe three members of a family with this deletion who present with a more severe phenotype. The severity cannot be explained by their Hb F levels, or the XmnI-HBG2 polymorphism. This deletion cannot be presumed to be associated with a mild disease phenotype and we recommend that patients with Hb S/β(0)-thal are screened for this deletion.
authors.affiliation: Blood Sciences, Guy's and St. Thomas' Pathology, St. Thomas' Hospital, London, UK.
authors.forename: Yvonne
authors.initials: Y
authors.lastname: Daniel
authors.forename: Kim
authors.initials: K
authors.lastname: Hill
authors.forename: Baba
authors.initials: B
authors.lastname: Inusa
authors.forename: Swee Lay
authors.initials: SL
authors.lastname: Thein
authors.forename: Jo
authors.initials: J
authors.lastname: Howard
mesh_terms: D000293:Adolescent; D000328:Adult; D000755:Anemia, Sickle Cell / Q000150:complications / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D005192:Family Health; D005260:Female; D006451:Hemoglobin, Sickle / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D010641:Phenotype; D017384:Sequence Deletion; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000150:complications / Q000235:genetics*
chemical_list: D006451:Hemoglobin, Sickle; D055544:beta-Globins