Valentine W N, Paglia D E, Tartaglia A P, Gilsanz F
Science. 1977 Feb 25;195(4280):783-5. doi: 10.1126/science.836588.
Hereditary hemolytic anemia, a dominantly transmitted disorder, has affected 12 family members spanning three generations. The concentration of adenosine triphosphate in the red cells was about half that of comparably reticulocyte-rich blood. Since adenosine deaminase and adenosine kinase compete for a common substrate, the greatly increased activity of the former may interfere with nucleotide salvage via the latter.
遗传性溶血性贫血是一种显性遗传疾病,已经影响了三代人中的12名家庭成员。红细胞中三磷酸腺苷的浓度约为富含网织红细胞的对照血液的一半。由于腺苷脱氨酶和腺苷激酶竞争共同底物,前者活性的大幅增加可能会干扰后者介导的核苷酸补救途径。