Hemoglobin C trait accentuates erythrocyte dehydration in hereditary xerocytosis.
Hemoglobin C trait accentuates erythrocyte dehydration in hereditary xerocytosis.
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DOI：
10.1002/pbc.26444
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发表时间：
2017-08
影响因子：
3.2
通讯作者：
Gallagher PG
中科院分区：
文献类型：
--
作者：
Yang E;Voelkel EB;Lezon-Geyda K;Schulz VP;Gallagher PG
一名17岁男性患者，表现为急性溶血，伴有口细胞增多症、平均红细胞血红蛋白浓度（MCHC）升高，渗透压梯度Ektacytometry结果与明显的红细胞脱水一致。父母双方的红细胞也表现出脱水的证据，MCHC升高和异常的Ektacytometry，但都没有患者的程度。遗传学研究显示，该患者患有遗传性干细胞症（HX），这是由于从其母亲遗传的新型PIEZO 1突变和从其父亲遗传的血红蛋白C（HbC）性状。血红蛋白C性状加重了HX的红细胞脱水。当观察到严重的红细胞脱水时，应考虑相关疾病和/或修饰等位基因的共遗传。
A 17-year-old male presented with acute hemolysis with stomatocytosis, elevated mean corpuscular hemoglobin concentration (MCHC), and osmotic gradient ektacytometry consistent with marked erythrocyte dehydration. Erythrocytes from both parents also demonstrated evidence of dehydration with elevated MCHC and abnormal ektacytometry, but neither to the degree of the patient. Genetic studies revealed the patient had hereditary xerocytosis (HX) due to a novel PIEZO1 mutation inherited from his mother and hemoglobin C (HbC) trait inherited from his father. HbC trait accentuated the erythrocyte dehydration of HX. Coinheritance of interrelated disorders and/or modifier alleles should be considered whenever severe erythrocyte dehydration is observed.
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影响因子：
3
作者：
Glogowska E;Gallagher PG
通讯作者：
Gallagher PG
影响因子：
15.9
作者：
BRUGNARA, C;KOPIN, AS;TOSTESON, DC
通讯作者：
TOSTESON, DC
影响因子：
9.8
作者：
Ferreira, Manuel A. R.;Hottenga, Jouke-Jan;Boomsma, Dorret I.
通讯作者：
Boomsma, Dorret I.
影响因子：
30.8
作者：
Soranzo, Nicole;Spector, Tim D.;Mangino, Massimo;Kuehnel, Brigitte;Rendon, Augusto;Teumer, Alexander;Willenborg, Christina;Wright, Benjamin;Chen, Li;Li, Mingyao;Salo, Perttu;Voight, Benjamin F.;Burns, Philippa;Laskowski, Roman A.;Xue, Yali;Menzel, Stephan;Altshuler, David;Bradley, John R.;Bumpstead, Suzannah;Burnett, Mary-Susan;Devaney, Joseph;Doering, Angela;Elosua, Roberto;Epstein, Stephen E.;Erber, Wendy;Falchi, Mario;Garner, Stephen F.;Ghori, Mohammed J. R.;Goodall, Alison H.;Gwilliam, Rhian;Hakonarson, Hakon H.;Hall, Alistair S.;Hammond, Naomi;Hengstenberg, Christian;Illig, Thomas;Koenig, Inke R.;Knouff, Christopher W.;McPherson, Ruth;Melander, Olle;Mooser, Vincent;Nauck, Matthias;Nieminen, Markku S.;O'Donnell, Christopher J.;Peltonen, Leena;Potter, Simon C.;Prokisch, Holger;Rader, Daniel J.;Rice, Catherine M.;Roberts, Robert;Salomaa, Veikko;Sambrook, Jennifer;Schreiber, Stefan;Schunkert, Heribert;Schwartz, Stephen M.;Serbanovic-Canic, Jovana;Sinisalo, Juha;Siscovick, David S.;Stark, Klaus;Surakka, Ida;Stephens, Jonathan;Thompson, John R.;Voelker, Uwe;Voelzke, Henry;Watkins, Nicholas A.;Wells, George A.;Wichmann, H-Erich;Van Heel, David A.;Tyler-Smith, Chris;Thein, Swee Lay;Kathiresan, Sekar;Perola, Markus;Reilly, Muredach P.;Stewart, Alexandre F. R.;Erdmann, Jeanette;Samani, Nilesh J.;Meisinger, Christa;Greinacher, Andreas;Deloukas, Panos;Ouwehand, Willem H.;Gieger, Christian
通讯作者：
Gieger, Christian
影响因子：
1.2
作者：
Johnson, RM;Ravindranath, Y
通讯作者：
Ravindranath, Y