What is an autosomal disease?

An autosomal disease is a genetic disorder caused by mutations in the genes located on the autosomes (the 22 pairs of non-sex chromosomes).

Key Points:

• Can be dominant (expressed with one faulty gene) or recessive (expressed only if both copies are faulty).
• Affects both males and females equally since autosomes are not linked to sex.
• Examples: Cystic fibrosis, Sickle cell anemia, Thalassemia, Huntington’s disease.