What type of genetic disorder is sickle cell anemia?
Dec 12, 2025
Source: Cainiu Health
Dr. Li Feng
Introduction
Sickle cell anemia is an autosomal recessive genetic disorder caused by a mutation in the hemoglobin gene. An individual can only be affected if both parents carry the disease-causing gene. Autosomal recessive inheritance means that the disease-causing gene is located on an autosome and is not related to sex. If both parents are carriers of the defective gene, they typically do not show symptoms themselves.
Sickle cell anemia is an autosomal recessive genetic disorder caused by a mutation in the hemoglobin gene. A child can only be affected if both parents carry the disease-causing gene. Detailed explanation is as follows:
Autosomal recessive inheritance means that the disease-causing gene is located on an autosome and is not related to sex. If both parents are carriers of the defective gene, they usually do not develop the disease themselves, but each can pass one copy of the mutated gene to their offspring. The child then has a 25% chance of inheriting two defective genes and developing the disease, and a 50% chance of becoming a carrier. The core issue of this condition is that the mutated gene causes structural abnormalities in hemoglobin, leading red blood cells to assume a sickle shape. These abnormal red blood cells are prone to rupture, causing anemia, and may also block blood vessels, resulting in tissue hypoxia. Individuals with a family history of the disease are advised to undergo premarital or prenatal genetic testing to assess risks in advance.
In daily life, proper genetic counseling can effectively reduce the likelihood of passing on the disorder and help ensure the health of future generations.
