Novelli G, Stocchi V, Giannotti A, Magnani M, Dallapiccola B
Hum Hered. 1986;36(1):37-40. doi: 10.1159/000153597.
A 4-fold increase of red blood cell adenosine deaminase (ADA) activity was found in a patient without haemolytic anaemia, but with mild anisopoikilocytosis. High-performance liquid chromatography showed a 40% reduction of adenosine-5'-triphosphate (ATP) while all the other nucleotides were in normal ranges. The patient's parents (first cousins) and a brother displayed the same enzyme activities as the controls. This observation suggests that mild increases of ADA activity is neither a marker for congenital hypoplastic anaemia as previously reported nor associated with haemolytic anaemia.
在一名无溶血性贫血但有轻度红细胞大小不均一性的患者中,发现红细胞腺苷脱氨酶(ADA)活性增加了4倍。高效液相色谱显示三磷酸腺苷(ATP)减少了40%,而所有其他核苷酸均在正常范围内。该患者的父母(近亲)和一个兄弟表现出与对照组相同的酶活性。这一观察结果表明,ADA活性的轻度升高既不是先前报道的先天性再生障碍性贫血的标志物,也与溶血性贫血无关。