Essien E M, Ebhota M I
Acta Haematol. 1977;58(6):353-8. doi: 10.1159/000207849.
The first case of Fletcher factor deficiency from the African continent is described. This was the only case of symptomatic Fletcher factor deficiency detected in a total population survey of 40,522 persons. This patient differs from other reported cases in that the child had symptoms of severe bleeding defect such as recurrent haemarthrosis and haematoma. The clinical features appear to improve with age. Both the PTT 'time course' and cold-induced EACA acceleration of the thromboplastin time are useful diagnostic tests for detecting homozygous patients. Our results confirm an earlier report that the EACA test is a sensitive test for detecting heterozygotes.
本文描述了非洲大陆首例弗莱彻因子缺乏症病例。这是在对40522人进行的总人口调查中检测到的唯一一例有症状的弗莱彻因子缺乏症病例。该患儿与其他报告病例不同,其有严重出血缺陷的症状,如反复关节积血和血肿。临床特征似乎随年龄增长而改善。部分凝血活酶时间(PTT)的“时间进程”和冷诱导的6-氨基己酸(EACA)对凝血酶原时间的加速作用都是检测纯合子患者的有用诊断试验。我们的结果证实了之前的一份报告,即EACA试验是检测杂合子的敏感试验。