A Case of .BETA.-thalassemia with a C.RAR.T Substitution at Position 654 of the Second Intervening Sequence of the .BETA.-globin Gene.
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概要
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A 26-year-old Chinese-Malaysian female patient with β-thalassemia is presented. The main hematological values found in this patient were as follows : 1) normocytic hypochromic anemia (RBC 444×104/μl, Hb 11.8g/dl) with marked anisopoikilocytosis, 2) erythroidhyperplasia, and 3) increased HbF (HbA 41.4%, HbA2 2.9%, HbF 48.9%). DNA obtained from peripheral leukocytes was analyzed using dot blot hybridization of the polymerase chain reaction (PCR)- amplified DNA with allele-specific oligonucleotide probes. A C→T substitution at position 654 of the second intervening sequence (IVS-2) was detected in her β-globin clone.(Internal Medicine 31 : 269-272, 1992)
著者
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TOMONAGA Masao
Department of Hematology, Atomic Disease Institute, Nagasaki University School of Medicine
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Sadamori Naoki
Department Of Internal Med.
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Tomonaga Masao
Department Of Haematology Atomic Bomb Disease Institute Nafasaki University School Of Medicine
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Ichimaru Michito
Department Of Hematology Atomic Disease Institute Nagasaki University School Of Medicine
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Momita Saburo
Department of Hematology, Japanese Red-Cross Nagasaki Atomic Bomb Hospital
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JO Tatsuro
Department of Hematology, Atomic Disease Institute, Nagasaki University School of Medicine
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FUCHAROEM Supan
Research Laboratory for Genetic Information, Kyushu University
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FUKUMAKI Yasuyuki
Research Laboratory for Genetic Information, Kyushu University
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MOMITA Saburo
Department of Hematology, Atomic Disease Institute, Nagasaki University School of Medicine
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SADAMORI Naoki
Department of Hematology, Atomic Disease Institute, Nagasaki University School of Medicine
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- A Case of .BETA.-thalassemia with a C.RAR.T Substitution at Position 654 of the Second Intervening Sequence of the .BETA.-globin Gene.
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