Castle S, Board P G, Anderson R A
Br J Haematol. 1981 Jun;48(2):337-42.
In previously reported cases, congenital deficiency of coagulation factor XIII has been found to result from the absence of the enzymatically active A subunits. In the family reported here two members were found to be heterozygous for an unstable A subunit which, in the homozygous state, or in the heterozygous state with the previously described null allele, would be expected to result in factor XIII deficiency. The implications that this new variant has on heterozygote screening are discussed.
在先前报道的病例中，已发现凝血因子XIII先天性缺乏是由于缺乏具有酶活性的A亚基所致。在此报道的家族中，发现两名成员为不稳定A亚基的杂合子，预计该亚基在纯合状态下，或与先前描述的无效等位基因处于杂合状态时，会导致因子XIII缺乏。讨论了这种新变体对杂合子筛查的影响。
