What are the risks of hemorrhagic disease?

  One morning in early spring, an anxious-looking mother hurried to the hospital with a boy of about 4 years old in her arms. The boy’s face was pale and his nostrils were constantly flowing with bright red nosebleeds. The mother appeared at her wits’ end, as the boy was her only son, and since birth, epistaxis, gum bleeding and recurrent skin purpura had occurred frequently. The cause of the bleeding was unknown, and the administration of general hemostatic drugs did not solve the problem, and platelet transfusions were needed to stop the bleeding each time.  After patient history taking, the doctor performed a series of tests on the child, including bleeding time, platelet function induced by ristomycin and platelet membrane glycoprotein antigen expression test, etc. An accurate judgment was soon made and after further genetic analysis, the child was finally diagnosed with “platelet anemia”, which is a This is a hereditary GPIIb/IIIa gene defect causing low platelet aggregation, which can lead to recurrent bleeding in the skin and mucous membranes, and in severe cases, internal bleeding and secondary anemia. After prompt hemostatic treatment was given, the child’s bleeding symptoms were controlled. However, his mother seemed confused because there was no history of hereditary bleeding disorders in both parents’ families, so why did her son get this disease? Director Feng Ying did a detailed examination and genetic analysis of the parents and found that both parents carried the defective genes GPIIb and GPIIIa respectively, and they did not show significant bleeding because of the single gene defect, but their next generation had a 1/2 chance of being “pure” and prone to However, there is a 1 in 2 chance that their next generation will be “pure” and will be prone to severe platelet function defects.  Inherited bleeding disorders account for only 1 to 2% of the population in China. Common disorders include hemophilia, vascular hemophilia, congenital abnormalities of vitamin K metabolism, and congenital platelet function defects such as platelet anemia and giant platelet syndrome. Once the disease is present, the impact on both the patient and the family is lifelong. Clinical manifestations include recurrent skin and mucous membrane bleeding, joint bleeding and even internal bleeding, secondary anemia, increased menstruation in female patients, and severe cerebral hemorrhage that can lead to paralysis, confusion and even death. In addition to the pain of the disease, there are endless blood transfusion and hemostasis treatments, which bring a heavy burden to the family economy, and the patients are likely to pass the disease gene to the next generation after marriage and childbirth, which will have a negative impact on the stability of the society and the development of the country.