2016年1月～12月の検査実績
| 診断名 | Cases | % | |
|---|---|---|---|
| 酵素異常 | グルコース-6-リン酸脱水素酵素異常症（G6PD） | 2 | 2.5 |
| ホスホグリセリン酸キナーゼ異常症（PGK） | 5 | 6.3 | |
| G6PD+ヘモグロビン異常 | 1 | 1.3 | |
| 膜異常 | 遺伝性球状赤血球症（HS） | 29 | 36.3 |
| 遺伝性楕円赤血球症（HE） | 5 | 6.3 | |
| 遺伝性熱変形赤血球症（HPP） | 1 | 1.3 | |
| 遺伝性有口赤血球症（HSt） | 8 | 10.0 | |
| その他 膜異常 | 3 | 3.8 | |
| Hb 異常 | ヘモグロビン異常症（サラセミア含む） | 3 | 3.8 |
| その他 | 2 | 2.5 | |
| 診断未確定 | 21 | 26.3 | |
| 合計 | 80 |
%は、小数点第2位を四捨五入しています
論文
1. Arashiki N, Takakuwa Y, Mohandas N, Hale J, Yoshida K, Ogura H, Utsugisawa T, Ohga S, Miyano S, Ogawa S, Kojima S, Kanno H. ATP11C is a major flippase in human erythrocytes and its defect causes congenital hemolytic anemia. Haematologica. 2016; 101: 559-565.
2. Niizuma H, Kanno H, Sato A, Ogura H, Imaizumi M. Splenectomy resolves hemolytic anemia caused by adenylate kinase deficiency. Pediatr Int. 2017; 59: 228-230.
3. Muramatsu H, Okuno Y, Yoshida K, Shiraishi Y, Doisaki S, Narita A, Sakaguchi H, Kawashima N, Wang X, Xu Y, Chiba K, Tanaka H, Hama A, Sanada M, Takahashi Y, Kanno H, Yamaguchi H, Ohga S, Manabe A, Harigae H, Kunishima S, Ishii E, Kobayashi M, Koike K, Watanabe K, Ito E, Takata M, Yabe M, Ogawa S, Miyano S, Kojima S. Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes. Genet Med. 2017 Jan 19. doi: 10.1038/gim.2016.197.
4. Ikeda F, Yoshida K, Toki T, Uechi T, Ishida S, Nakajima Y, Sasahara Y, Okuno Y, Kanezaki R, Terui K, Kamio T, Kobayashi A, Fujita T, Sato-Otsubo A, Shiraishi Y, Tanaka H, Chiba K, Muramatsu H, Kanno H, Ohga S, Ohara A, Kojima S, Kenmochi N, Miyano S, Ogawa S, Ito E. Exome sequencing identified RPS15A as a novel causative gene for Diamond-Blackfan anemia. Haematologica. 2017; 102: e93-e96.
5. Ichimura T, Yoshida K, Okuno Y, Yujiri T, Nagai K, Nishi M, Shiraishi Y, Ueno H, Toki T, Chiba K, Tanaka H, Muramatsu H, Hara T, Kanno H, Kojima S, Miyano S, Ito E, Ogawa S, Ohga S. Diagnostic challenge of Diamond-Blackfan anemia in mothers and children by whole-exome sequencing. Int J Hematol. 2017; 105: 515-520
6. Utsugisawa T, Uchiyama T, Toki T, Ogura H, Aoki T, Hamaguchi I, Ishiguro A, Ohara A, Kojima S, Ohga S, Ito E, Kanno H. Erythrocyte glutathione is a novel biomarker of Diamond-Blackfan anemia. Blood Cells, Molecules and Diseases. 2016; 59: 31-36
7. Imashuku S, Muramatsu H, Sugihara T, Okuno Y, Wang X, Yoshida K, Kato A, Kato K, Tatsumi Y, Hattori A, Kita S, Oe K, Sueyoshi A, Usui T, Shiraishi Y, Chiba K, Tanaka H, Miyano S, Ogawa S, Kojima S, Kanno H. PIEZO1 gene mutation in a Japanese family with hereditary high phosphatidylcholine hemolytic anemia and hemochtomatosis-induced diabetes mellitus. Int J Hematol. 2016; 104: 125-129
8. Ikeda F, Toki T, Kanezaki R, Terui K, Yoshida K, Kanno H, Ohga S, Ohara A, Kojima S, Ogawa S, Ito E. ALDH2 polymorphism in patients with Diamond-Blackfan anemia in Japan. Int J Hematol. 2016; 103:112-114
9. 西本瑛里, 西久保敏也, 釜本智之, 石原 卓, 山口直子, 菅野 仁, 高橋幸博. マイクロプレート法による赤血球浸透圧抵抗試験とeosin-5-maleimideを用いた赤血球膜band 3定量法が診断に有用であった新生児期に重症黄疸を発症した赤血球膜蛋白異常症の1例 日本産婦人科・新生児血液学会誌. 2017; 26: 71-76