title: Hemoglobin H disease induced by the common SEA deletion and the rare hemoglobin Quong Sze in a Thai female: longitudinal clinical course, molecular characterization, and development of a PCR/RFLP-based detection method.
abstract: We report on a Thai female patient who presented with hypochromic microcytic anemia, hepatosplenomegaly, and failure to thrive since 3 years of age. Hematological and hemoglobin (Hb) analysis were consistent with a clinical diagnosis of Hb H disease. However, no abnormal Hb fraction had ever been detected. During the 20 years of follow-up, this patient experienced several episodes of hemolytic crisis, which worsened her anemia, necessitating blood transfusion. Recently, we identified Hb Quong Sze (Hb QS), a highly unstable globin gene mutation affecting codon 125 (CTG-->CCG) of alpha(2) globin gene in trans with the commonest alpha(0) thalassemia (-(SEA)) in the patient. This report highlights the clinical significance of Hb QS in Southeast Asians, as previously almost all of the patients described with this variant were of Chinese origin.
authors.affiliation: Division of Medical Genetics and Molecular Medicine, Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok 10400, Thailand.
authors.forename: Thanyachai
authors.initials: T
authors.lastname: Sura
authors.forename: Objoon
authors.initials: O
authors.lastname: Trachoo
authors.forename: Vip
authors.initials: V
authors.lastname: Viprakasit
authors.forename: Prin
authors.initials: P
authors.lastname: Vathesatogkit
authors.forename: Atchara
authors.initials: A
authors.lastname: Tunteeratum
authors.forename: Manisa
authors.initials: M
authors.lastname: Busabaratana
authors.forename: Raewadee
authors.initials: R
authors.lastname: Wisedpanichkij
authors.forename: Parttraporn
authors.initials: P
authors.lastname: Isarangkura
mesh_terms: D000328:Adult; D002675:Child, Preschool; D005260:Female; D006454:Hemoglobins / Q000032:analysis; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008137:Longitudinal Studies; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D017384:Sequence Deletion; D013785:Thailand; D017085:alpha-Thalassemia / Q000175:diagnosis / Q000235:genetics*
chemical_list: D006454:Hemoglobins; D006455:Hemoglobins, Abnormal; C045396:hemoglobin Quong Sze