Vainchenker W, Guichard J, Breton-Gorius J
Br J Haematol. 1979 Jul;42(3):363-9. doi: 10.1111/j.1365-2141.1979.tb01144.x.
The results of cytological and ultrastructural analysis of erythroid burst colonies derived from the peripheral blood of two patients with HEMPAS have been compared to those obtained in normal controls. Using the plasma clot technique, in studies on 10 subjects we confirmed that most of the colonies consisted or erythroblasts with a synchronous and normal maturation involving a wave of nuclear extrusion at day 13. In contrast, the majority of well-haemoglobinized colonies from HEMPAS consisted of numerous bi- or multinucleated erythroblasts displaying the supplementary double membrane beneath their plasma membrane. This excessive membrane may be present as a continuous or fragmented structure in different erythroblasts from the same colony. These findings suggest that the progeny derived from one BFU-E may vary considerably in their morphological defects. Furthermore, one third of the packed colonies appeared to be formed by non-haemoglobinized cells which were clearly identified by electron microscopy as very early erythroblasts. These cells were unable to mature and subsequently lysed. Thus dyserythropoiesis occurred in culture both at early and late stages of maturation. These studies clearly demonstrate that HEMPAS is a disorder resulting from defective erythroid committed cells.
对两名先天性红细胞生成异常性贫血（HEMPAS）患者外周血来源的红系爆式集落进行了细胞学和超微结构分析，并与正常对照者的结果进行了比较。采用血浆凝块技术，在对10名受试者的研究中，我们证实大多数集落由成红细胞组成，其成熟同步且正常，在第13天会出现一波核排出。相比之下，HEMPAS患者大多数血红蛋白化良好的集落由大量双核或多核成红细胞组成，其质膜下有额外的双层膜。这种多余的膜在同一集落的不同成红细胞中可能以连续或碎片化结构存在。这些发现表明，源自一个红系爆式形成单位（BFU-E）的后代在形态缺陷方面可能有很大差异。此外，三分之一的紧密集落似乎由未血红蛋白化的细胞形成，通过电子显微镜明确鉴定为非常早期的成红细胞。这些细胞无法成熟并随后裂解。因此，在培养中红细胞生成异常发生在成熟的早期和晚期阶段。这些研究清楚地表明，HEMPAS是一种由红系定向祖细胞缺陷导致的疾病。
