Morita H, Wada H, Tsujinoue H, Kurioka T, Ueno Y, Shichikawa K, Amano H, Higo I, Kanzaki A, Yawata Y
Shichikawa Arthritis Research Center, Hisai.
Intern Med. 1994 Feb;33(2):103-6. doi: 10.2169/internalmedicine.33.103.
A 52-year-old female with congenital stomatocytosis showed hemolytic anemia, an increased mean corpuscular volume (MCV), and mean corpuscular hemoglobin concentration (MCHC), reticulocytosis and an increased osmotic fragility. Lipid and protein content of membranes, the activities of membrane-associated enzymes in erythrocytes and the elution pattern of hemoglobin were normal. Erythrocyte Na+ influx was moderately increased and Na+ efflux, particularly ouabain-insensitive Na+ "leak-out" was also increased. K+ concentration of erythrocytes was abnormally low with a slightly increased Na+ content. These phenotypes are very rare, and should be classified as a variant type.
一名52岁患有先天性口形红细胞增多症的女性表现出溶血性贫血、平均红细胞体积(MCV)增加、平均红细胞血红蛋白浓度(MCHC)增加、网织红细胞增多以及渗透脆性增加。红细胞膜的脂质和蛋白质含量、与膜相关酶的活性以及血红蛋白的洗脱模式均正常。红细胞钠内流适度增加,钠外流,尤其是哇巴因不敏感的钠“漏出”也增加。红细胞钾浓度异常低,钠含量略有增加。这些表型非常罕见,应归类为一种变异类型。