Fukuda M N
La Jolla Cancer Research Foundation, CA 92037.
Glycobiology. 1990 Sep;1(1):9-15. doi: 10.1093/glycob/1.1.9.
Congenital dyserythropoietic anaemia Type II or HEMPAS (hereditary erythroblastic multinuclearity with positive acidified serum lysis test) is a rare genetic anaemia in humans, inherited in an autosomally recessive mode. Biochemical analyses of HEMPAS erythrocyte membranes suggested strongly that HEMPAS is caused by defective glycosylation of erythrocyte membrane glycoproteins. Most recently a HEMPAS case has been identified as being defective in the gene encoding Golgi alpha-mannosidase II by using cDNA probe of alpha-mannosidase II. At present, it is not clear whether HEMPAS is a genetically heterogenous collection of glycosylation deficiencies, as some HEMPAS cases showed a low level of N-acetylglucosaminyltransferase II. Abnormal glycosylation of serum glycoproteins and association of liver cirrhosis in HEMPAS patients indicate that HEMPAS disease is not restricted to erythroid cells. On the other hand, normal development of HEMPAS patients during embryonic stage strongly suggests the possibilities of fetal type isozyme in place of defective glycosylation enzyme.
II型先天性红细胞生成异常性贫血或HEMPAS（遗传性红细胞多核性伴酸化血清溶解试验阳性）是人类一种罕见的遗传性贫血，以常染色体隐性模式遗传。对HEMPAS红细胞膜的生化分析强烈表明，HEMPAS是由红细胞膜糖蛋白糖基化缺陷引起的。最近，通过使用α-甘露糖苷酶II的cDNA探针，已确定一例HEMPAS病例在编码高尔基体α-甘露糖苷酶II的基因中存在缺陷。目前尚不清楚HEMPAS是否是糖基化缺陷的遗传异质性集合，因为一些HEMPAS病例显示N-乙酰葡糖胺基转移酶II水平较低。HEMPAS患者血清糖蛋白的异常糖基化和肝硬化的关联表明，HEMPAS疾病并不局限于红细胞。另一方面，HEMPAS患者在胚胎期的正常发育强烈提示存在胎儿型同工酶替代缺陷糖基化酶的可能性。
