Nondeletional Hb Queens Park [α32(B13)Met→Lys]/Hb H (β4) Disease
Source: Hemoglobin, Volume 36, Number 3, June 2012 , pp. 293-298(6)
Publisher: Informa Healthcare
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.
Document Type: Short Communication
Affiliations: 1: 1Blood Disease Diagnostic Center, Hematology Division, Department of Pathology, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand 2: 2Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
Publication date: June 1, 2012