An autosomal recessive disease is a type of genetic disorder that results from inheriting a pair of mutant genes, or alleles, for a specific trait located on autosomal chromosomes. Contrary to autosomal dominant diseases, which only require one mutant allele for manifestation, autosomal recessive diseases necessitate the presence of two copies of the mutant allele for the condition to develop.
Typically, these diseases arise when an individual inherits one normal allele and one mutated allele, largely due to parents who are carriers, meaning they possess one normal and one mutated allele. Since the normal allele can compensate for the defective one, carriers usually do not display symptoms. However, if both parents are carriers, they have a 25% chance of passing on both defective alleles to their child, increasing the risk of developing an autosomal recessive disease.
The manifestation of autosomal recessive diseases exhibits significant variability and can encompass a wide range of disorders affecting various body systems, including metabolism, blood disorders, neurological conditions, and many others. Some examples of autosomal recessive diseases include cystic fibrosis, sickle cell disease, Tay-Sachs disease, and phenylketonuria.
Genetic counseling and carrier screening are frequently recommended for individuals with a family history of autosomal recessive diseases or those belonging to high-risk populations. Early diagnosis through genetic testing is crucial for appropriate management and treatment, as well as for making informed reproductive decisions.
