Viskochil D H, Carey J C, Glader B E, Rothstein G, Christensen R D
Division of Human Development and Aging, University of Utah School of Medicine, Salt Lake City.
Am J Med Genet. 1990 Feb;35(2):251-6. doi: 10.1002/ajmg.1320350221.
Congenital hypoplastic (Diamond-Blackfan) anemia is a rare macrocytic anemia, generally presenting during infancy or childhood. The condition usually occurs sporadically or in a pattern consistent with autosomal recessive inheritance, although autosomal dominant transmission has been proposed in some kindreds. We report the largest known kindred of congenital hypoplastic anemia, with at least 7 affected individuals over 3 generations, and propose that studies of this kindred may be useful for identifying the mechanism by which their genetic abnormality results in congenital hypoplastic anemia. Erythropoietic investigations on relatives show no inhibitors of erythropoiesis in serum, T-lymphocytes, or macrophages. Their erythroid progenitor cells (CFU-E and BFU-E) were generally quantitatively normal, and were capable of rapid proliferation, as judged by cell-cycle shortening. However, their erythroid progenitors displayed a relative insensitivity to recombinant erythropoietin, and produced relatively few normoblasts per erythroid progenitor cell. We propose that these and subsequent studies may be helpful in selecting candidate genes responsible for the molecular defect in this kindred.
先天性发育不全（戴蒙德-布莱克范）贫血是一种罕见的大细胞性贫血，通常在婴儿期或儿童期出现。这种疾病通常散发出现，或呈现出与常染色体隐性遗传一致的模式，不过在一些家族中也有人提出存在常染色体显性遗传传递的情况。我们报告了已知最大的先天性发育不全贫血家族，三代中至少有7名患者，并提出对这个家族的研究可能有助于确定其基因异常导致先天性发育不全贫血的机制。对亲属进行的红细胞生成研究表明，血清、T淋巴细胞或巨噬细胞中不存在红细胞生成抑制因子。他们的红系祖细胞（CFU-E和BFU-E）数量通常正常，并且根据细胞周期缩短情况判断，能够快速增殖。然而，他们的红系祖细胞对重组促红细胞生成素相对不敏感，每个红系祖细胞产生的正成红细胞相对较少。我们提出，这些研究及后续研究可能有助于筛选出导致这个家族分子缺陷的候选基因。
