A Rare Super-Unstable Hemoglobin Variant, Hb Monroe [β30(B12)Arg→Thr], Found in Two Myanmar Children
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概要
- 論文の詳細を見る
During the making of a precise molecular diagnosis of blood from transfusion dependent anemic patients in the Union of Myanmar by the PCR-sequencing technique, we encountered two Myanmar children (My-194 and My-201) with a rare abnormal hemoglobin, Hb Monroe [β30(B12)Arg→Thr], which causes β^0-thalassemia due to missplicing in the course of mRNA processing. One of the children, My-194, was a compound heterozygote for Hb Monroe and a thalassemia mutation of βIVS I-5 G→C, who had a condition of severeβ^+-thalassemia resembling a β^0-thalassemia, while the other, My-201, a homozygote for Hb Monroe. However, Hb analyses of My-194 with IEF and DEAE-HPLC revealed a normal pattern, suggesting that it may be due to blood transfusion. Hb analyses of My-201 showed the presence of Hb A to be about 0%, with Hb F being the main Hb component, suggesting that in this case Hb F instead of Hb A may be produced as the main Hb.
- 川崎医科大学の論文
著者
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HARANO Teruo
Department of Biochemistry, Kawasaki Medical School
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HARANO Keiko
Department of Clinical Nutrition, Faculty of Medical Professions, Kawasaki University of Medical Wel
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Win Ne
Pathology Research Division Department Of Medical Research (lower Myanmar)
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Harano Keiko
Department Of Biochemistry Kawasaki Medical School
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Harano Keiko
Department Of Nutrition Faculty Of Medical Professions Kawasaki University Of Medical Welfare
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Harano Teruo
Department Of Biochemistry Kawasaki Medical School
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HARANO Keiko
Department of Biochemistry and Department of Clinical Pathology, Kawasaki Medical School
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