Abstract for presentation at 11th International Congress of Human Genetics

Dr Objoon Trachoo, Division of Medical Genetics and Molecular Medicine, Department of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
Dr Pimjai Nipharak, Division of Hematology, Department of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
Mrs Kanoknan Srichan, Division of Medical Genetics and Molecular Medicine, Department of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
Dr Prasit Phowthongkum, Division of Medical Genetics, Department of Medicine, King Chulalongkorn Memorial Hospital, Chulalongkorn University, Bangkok, Thailand
Dr Suporn Chanjarunee, Division of Hematology, Department of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
Dr Surasak Kantachuvessiri, Division of Nephrology, Department of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
Dr Panus Chalermsaenyakorn, Department of Pathology, Department of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
A/Prof Thanyachai Sura, Division of Medical Genetics and Molecular Medicine, Department of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
We report on Thai male identical twins who presented with hypochromic microcytic anemia, hepatosplenomegaly and gross hematuria since the age of 16. Hematological and hemoglobin analysis were consistent with a clinical diagnosis of beta thalassemia-Hb E disease and molecular diagnosis was confirmed by direct gene sequencing of all exons and splice junctions of beta globin gene. Neither structural renal disease nor renal stone was found from ultrasonographical findings. However, no specific cause of hematuria has been detected; therefore, renal biopsy was performed. Histological examination and specific immunological stain of renal tissue showed the evidence of IgA nephropathy. Recently, there were few reports of thalassemia disease associated with such particular renal involvement; thus far, we propose to include urinalysis screening in beta thalassemia-Hb E patients during follow-up in order to prevent further renal damage and end-stage renal disease.