caa a22 4500 463255712 CHVBK 20180405153354.0 cr unu---uuuuu 170326e20070901xx s 000 0 eng 10.1007/s00277-007-0303-9 doi (NATIONALLICENCE)springer-10.1007/s00277-007-0303-9 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 [Elektronische Daten] [Thanyachai Sura, Objoon Trachoo, Vip Viprakasit, Prin Vathesatogkit, Atchara Tunteeratum, Manisa Busabaratana, Raewadee Wisedpanichkij, Parttraporn Isarangkura] We report on a Thai female patient who presented with hypochromic microcytic anemia, hepatosplenomegaly, and failure to thrive since 3years 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 20years 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 α2 globin gene in trans with the commonest α0 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. Springer-Verlag, 2007 Thalassemia nationallicence Hemoglobinopathy nationallicence Hb H disease nationallicence Hb Quong Sze nationallicence Nondeletional α thalassemia nationallicence Sura Thanyachai Division of Medical Genetics and Molecular Medicine, Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, 10400, Bangkok, Thailand aut Trachoo Objoon Division of Medical Genetics and Molecular Medicine, Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, 10400, Bangkok, Thailand aut Viprakasit Vip Department of Pediatrics, Faculty of Medicine, Siriraj Hospital, Mahidol University, 10700, Bangkok, Thailand aut Vathesatogkit Prin Division of Medical Genetics and Molecular Medicine, Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, 10400, Bangkok, Thailand aut Tunteeratum Atchara Division of Medical Genetics and Molecular Medicine, Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, 10400, Bangkok, Thailand aut Busabaratana Manisa Division of Medical Genetics and Molecular Medicine, Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, 10400, Bangkok, Thailand aut Wisedpanichkij Raewadee Blood Disease Diagnostic Laboratory, Sirikit Medical Center, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, 10400, Bangkok, Thailand aut Isarangkura Parttraporn Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, 10400, Bangkok, Thailand aut Annals of Hematology Springer-Verlag 86/9(2007-09-01), 659-663 0939-5555 86:9<659 2007 86 277 https://doi.org/10.1007/s00277-007-0303-9 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s00277-007-0303-9 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Sura Thanyachai Division of Medical Genetics and Molecular Medicine, Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, 10400, Bangkok, Thailand aut NATIONALLICENCE 700 1- Trachoo Objoon Division of Medical Genetics and Molecular Medicine, Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, 10400, Bangkok, Thailand aut NATIONALLICENCE 700 1- Viprakasit Vip Department of Pediatrics, Faculty of Medicine, Siriraj Hospital, Mahidol University, 10700, Bangkok, Thailand aut NATIONALLICENCE 700 1- Vathesatogkit Prin Division of Medical Genetics and Molecular Medicine, Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, 10400, Bangkok, Thailand aut NATIONALLICENCE 700 1- Tunteeratum Atchara Division of Medical Genetics and Molecular Medicine, Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, 10400, Bangkok, Thailand aut NATIONALLICENCE 700 1- Busabaratana Manisa Division of Medical Genetics and Molecular Medicine, Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, 10400, Bangkok, Thailand aut NATIONALLICENCE 700 1- Wisedpanichkij Raewadee Blood Disease Diagnostic Laboratory, Sirikit Medical Center, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, 10400, Bangkok, Thailand aut NATIONALLICENCE 700 1- Isarangkura Parttraporn Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, 10400, Bangkok, Thailand aut NATIONALLICENCE 773 0- Annals of Hematology Springer-Verlag 86/9(2007-09-01), 659-663 0939-5555 86:9<659 2007 86 277 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer