What is the inheritance pattern of albinism?
Disease description:
A child at a friend's house has white skin all over the body; even the eyelashes and hair are white. People say he has albinism. I've heard that albinism is hereditary to some extent. What kind of inheritance does albinism follow?
Doctor's answer (1)
Dr. Wang Xiaoyan
Albinism is a congenital monogenic disorder caused by gene mutations, primarily characterized by reduced or absent pigmentation in the skin, eyes, or hair. It is inherited in various patterns, mainly including autosomal recessive and X-linked recessive inheritance. Autosomal recessive inheritance implies that the disease-causing gene is located on an autosome, and both parents must carry the defective gene for their child to be affected, with a 25% probability of occurrence. X-linked recessive inheritance is associated with the X chromosome and is more commonly observed in male patients. The global prevalence of albinism is approximately 1 in 17,000, meaning that on average, one in every 17,000 individuals has albinism. As albinism currently has no cure, patients should take proper daily precautions to avoid prolonged sun exposure and undergo regular ophthalmologic examinations.
