Sas G
Haematologia (Budap). 1984;17(1):81-6.
Since the description of the first thrombophilic family with congenital AT-III deficiency, increasing numbers of different types of the condition have become evident. Initially the anomaly seemed to be homogeneous and simple: the three main characteristics of AT-III (thrombin inactivating and heparin cofactor activity, antigen concentration) were decreased. This type of AT-III deficiency (type 1) was later divided into type 1a and 1b on the basis of the heparin affinity of the AT-III molecule. The first family with a different qualitative AT-III disorder (type 2) was described by our group in 1974. In the members of this family the AT-III antigen concentration was normal, but the molecule had no functional activity (AT-III Budapest). In the last few years some new variants of type 2 hereditary AT-III disorders have been observed; they are characterized by a loss of one or more functional properties of the AT-III molecule.
自从首例患有先天性抗凝血酶III（AT-III）缺乏症的血栓形成倾向家族被描述以来，越来越多不同类型的这种病症变得明显。最初，这种异常似乎是单一且简单的：AT-III的三个主要特征（凝血酶灭活和肝素辅因子活性、抗原浓度）均降低。这种类型的AT-III缺乏症（1型）后来根据AT-III分子的肝素亲和力被分为1a型和1b型。1974年我们团队描述了首个患有不同性质的AT-III病症（2型）的家族。在这个家族成员中，AT-III抗原浓度正常，但该分子没有功能活性（布达佩斯AT-III）。在过去几年中，观察到了一些2型遗传性AT-III病症的新变体；它们的特征是AT-III分子丧失一种或多种功能特性。
