Ganguly Mimi, Sutradhar Saurabh, Rajbangshi Arghya, Pattnaik Amrita, Maiti Dipshikha
Department of Paediatrics, Institute of Child Health, Kolkata, West Bengal, India.
Department of Paediatric Haemato-oncology, Institute of Child Health, Kolkata, West Bengal, India.
J Family Med Prim Care. 2022 Jun;11(6):3287-3289. doi: 10.4103/jfmpc.jfmpc_965_21. Epub 2022 Jun 30.
Factor VII deficiency is a rare bleeding disorder showing an autosomal recessive pattern of inheritance. Data from our country on this particular entity is lacking. Especially the specific mutations associated with this disease are not well documented. The disease can have a wide spectrum of presentation from asymptomatic to catastrophic central nervous system or gastrointestinal system bleed. It can often present early in the neonatal period or be detected quite later in life. The genotype and phenotype correlation is also not well understood. Here, we report a case of recurrent bleeding in an infant boy who was otherwise absolutely well. His investigations had revealed isolated prolonged prothrombin time which remained uncorrected despite administration of injection vit K. Specific assay for factor VII level revealed that its value less than 1%. Sequencing of the F7 gene revealed our patient to be homozygous for mutation of promoter consensus sequence of F7 gene (-94C > T).
凝血因子 VII 缺乏症是一种罕见的出血性疾病，呈常染色体隐性遗传模式。我国缺乏关于这一特定疾病实体的数据。特别是与该疾病相关的特定突变记录不完善。该疾病的表现范围广泛，从无症状到灾难性的中枢神经系统或胃肠道出血。它常在新生儿期早期出现，或在生命后期才被发现。基因型和表型的相关性也尚未完全了解。在此，我们报告一例男婴反复出血的病例，该男婴其他方面完全健康。他的检查显示凝血酶原时间单独延长，尽管注射了维生素 K 仍未得到纠正。凝血因子 VII 水平的特异性检测显示其值低于 1%。F7 基因测序显示我们的患者 F7 基因启动子共有序列发生突变（-94C>T），为纯合子。
