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.
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.
Sura
Thanyachai
T
Division of Medical Genetics and Molecular Medicine, Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok 10400, Thailand.
Trachoo
Objoon
O
Viprakasit
Vip
V
Vathesatogkit
Prin
P
Tunteeratum
Atchara
A
Busabaratana
Manisa
M
Wisedpanichkij
Raewadee
R
Isarangkura
Parttraporn
P
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*
D006454:Hemoglobins; D006455:Hemoglobins, Abnormal; C045396:hemoglobin Quong Sze