A gene transmitted disease, also known as a genetic disease or hereditary disease, refers to a medical condition that is caused by an abnormality or mutation in the genes of an individual. Genes are segments of DNA that contain the instructions for the development, functioning, and maintenance of the body. They are inherited from parents and are unique to each individual.
When there is a mutation or alteration in a gene, it can result in a gene transmitted disease. These diseases can be inherited from one or both parents, depending on the nature of the mutation. Gene transmitted diseases can manifest in various ways, including physical abnormalities, developmental delays, impaired organ function, and susceptibility to certain health conditions.
There are several types of gene transmitted diseases, including single gene disorders, chromosomal disorders, and multifactorial disorders. Single gene disorders, such as cystic fibrosis and sickle cell anemia, are caused by mutations in a single gene. Chromosomal disorders, such as Down syndrome, occur due to abnormalities in the structure or number of chromosomes. Multifactorial disorders, such as diabetes and heart disease, are influenced by a combination of genetic and environmental factors.
Diagnosis of gene transmitted diseases often involves genetic testing, which analyzes an individual's DNA to identify any abnormalities. Treatment for these diseases typically focuses on managing symptoms and preventing complications. Genetic counseling is also often recommended for individuals and families affected by gene transmitted diseases to better understand the condition, its inheritance patterns, and available options for family planning.
