Hereditary spherocytosis. I. Clinical, hematologic and genetic features in 28 cases, with particular reference to the osmotic and mechanical fragility of incubated erythrocytes.
Hereditary spherocytosis. I. Clinical, hematologic and genetic features in 28 cases, with particular reference to the osmotic and mechanical fragility of incubated erythrocytes.
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遗传性球形红细胞增多症。
DOI：
10.1182/blood.v6.11.1073.1073
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发表时间：
1951
期刊：
影响因子：
20.3
通讯作者：
R. F. Platzer
中科院分区：
文献类型：
--
作者：
Lawrence E. Young;M. J. Izzo;R. F. Platzer
本文报告28例遗传性球形红细胞增多症的临床、血液学和遗传学资料，以尽可能完整地描述这种疾病。根据这一经验，建议在对疑似病例进行诊断时，应注意以下典型的实验室检查结果：（1）外周血中存在球形红细胞或异常厚的红细胞;（2）红细胞的渗透脆性大于正常值;在新鲜细胞的脆性没有显著增加的情况下，测定应在血液在体温下无菌孵育24小时后进行;（3）新鲜抽取的红细胞的机械脆性大于正常值;（4）抗球蛋白（Coombs）试验阴性;（5）在体温下无菌培养48小时期间，红细胞溶解大于正常溶解;以及（6）亲属中存在类似异常。本组11例患者脾切除术后1年或1年以上，红细胞异常仍持续存在。描述了一例不寻常的慢性溶血性贫血病例，但未包括在编号系列中，因为（1）父母双方血液学正常，（2）球形红细胞增多症和异常大的渗透性和机械脆性，以及术后第5个月后不能证明自身溶血。这一案件的分类将推迟，以待进一步的经验。在父母、兄弟姐妹或后代中证明红细胞显示上述异常是明确诊断所必需的，但这一要求并不总是得到满足，因为亲属可能无法接受检查。此外，当父母和/或几个兄弟姐妹检查没有阳性结果时，低基因表达率，基因突变和非婚生可能被认为是解释。引用的证据表明，在某些情况下，低程度的表达或表达的可能性，并说明需要更敏感的实验室测试，可能有助于诊断这种疾病的最温和的形式。先证者的兄弟姐妹球形红细胞增多症的发病率低于先证者的后代，这一点被引用作为某些先证者基因突变理论的证据。一个简单的“定性”测试的渗透脆性孵育红细胞。
Clinical, hematologic and genetic data on 28 cases of hereditary spherocytosis are presented for the purpose of characterizing this disorder as completely as possible. On the basis of this experience it is recommended that the following typical laboratory findings be sought in establishing a diagnosis in suspected cases: (1) Presence of spherocytes or abnormally thick red cells in peripheral blood; (2) greater than normal osmotic fragility of the red cells; in cases in which the fragility of fresh cells is not significantly increased, determinations should be made after sterile incubation of the blood at body temperature for 24 hours; (3) greater than normal mechanical fragility of freshly drawn red cells; (4) negative antiglobulin (Coombs) test; (5) greater than normal lysis of the red cells during sterile incubation at body temperature for 48 hours; and (6) presence of similar abnormalities in relatives. Abnormality of the erythrocyte persisted in all of the 11 patients in this series followed one or more years after splenectomy. An unusual case of chronic hemolytic anemia is described but not included in the numbered series because (1) both parents were hematologically normal and (2) spherocytosis and abnormally great osmotic and mechanical fragility and autohemolysis could not be demonstrated after the fifth postoperative month. Classification of this case is deferred pending further experience. Demonstration in a parent, sibling or offspring of red cells showing the afore-mentioned abnormalities is necessary for an unequivocal diagnosis, but this requirement cannot always be met because relatives may not be available for examination. Moreover, when parents and/or several siblings are examined without positive findings, low gene expressivity, gene mutation and illegitimacy may be considered as explanations. Evidence is cited to suggest the possibility of a low degree of penetrance or expression in some cases and to illustrate the need for still more sensitive laboratory tests that might aid in diagnosis of the mildest forms of this disease. The lower incidence of spherocytosis in siblings of propositi than in offspring of propositi is cited as evidence bearing on the theory of gene mutation in some propositi. A simplified "qualitative" test of osmotic fragility of incubated red cells is described.