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Permalink : https://petit.lib.yamaguchi-u.ac.jp/3459
山口医学 Volume 53 Issue 4-5
published_at 2004-10-31
A family of hereditary spherocytic elliptocytosis
Hereditary spherocytic elliptocytosisの一家系
Sakuragi Shizu
Mitani Noriyuki
Tanaka Yoshinori
Matsui Kumiko
Matsuda Kazuhiro
Shinohara Kenji
Okubo Masashi
About This Article
Descriptions
本邦では稀な常染色体優性遺伝の遺伝性球楕円赤血球症,hereditary spherocytic elliptocytosisの一家系を報告する.発端者の娘には溶血性貧血を,父には溶血を認めたが,貧血はなかった.当初は遺伝性球状赤血球症hereditary spherocytosis(HS)と考えられていたが,発端者の赤血球の大部分は楕円赤血球ovalocyteでありmicrospherocyteも少数認められた.赤血球膜蛋白の分析では発端者ではspectrin,父ではprotein 4.1の量の減少を認めた.今回の結果のみでは本症の病態および親子の病型の違いについては十分には説明できず将来的には遺伝子異常などの分析が必要である.
Creator Keywords
溶血性貧血
遺伝性楕円赤血球症
Rights
本文データは山口大学医学会の許諾に基づきCiNiiから複製したものである
Other Article
PP. 221 - 229