title: Nondeletional Hb Queens Park [α32(B13)Met→Lys]/Hb H (β4) disease.
abstract: A rare nondeletional α-thalassemia-2 (α-thal-2) allele was identified in a Thai boy with Hb H (β4) disease. The proband has α-thal-1 (- -(SEA) type) together with a non productive Hb Queens Park (HBA1:c.98T>A) [α32(B13)Met→Lys] α1-globin variant. No abnormal hemoglobin (Hb) fraction was detected by high performance liquid chromatography (HPLC). The clinical effect of this mutation in the proband was comparable to that of deletional α-thal-2 present in Hb H disease.
authors.affiliation: Blood Disease Diagnostic Center, Hematology Division, Department of Pathology, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Rama 6 Road, Bangkok, Thailand.
authors.forename: Suravee
authors.initials: S
authors.lastname: Sroymora
authors.forename: Sumalee
authors.initials: S
authors.lastname: Jindadamrongwech
authors.forename: Punnee
authors.initials: P
authors.lastname: Butthep
authors.forename: Suporn
authors.initials: S
authors.lastname: Chuncharunee
mesh_terms: D002648:Child; D004252:DNA Mutational Analysis; D006447:Hemoglobin H / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D017384:Sequence Deletion; D017085:alpha-Thalassemia / Q000175:diagnosis / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal; C550545:hemoglobin Queens Park; D006447:Hemoglobin H