What Are Some Examples of Genetic Disorders?


Quick Answer

Types of genetic disorder include single gene disorders, such as sickle-cell anemia; chromosomal disorders, including Down syndrome; and complex disorders, which affect two or more genes, according to MedlinePlus. Environment and lifestyle choices often affect complex disorders such as colon cancer. Doctors diagnose genetic disorders using blood and other tissue samples.

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Because genetic changes affect DNA, they are present in every cell in the body. These changes often affect more than one of the body’s systems and have no cure. However, treatment and management of the signs and symptoms is often possible, according to Genetics Home Reference.

Some genetic conditions prevent the body from producing the enzymes it needs to digest certain foods. With this type of condition, dietary changes help to manage the symptoms. However, other changes cause life-threatening birth defects and require surgery. The most severe genetic disorders make it impossible for a fetus to survive and may result in miscarriage or stillbirth. Some of these babies die shortly after birth, reports Genetics Home Reference.

Genetic disorders also increase the chances of disease later in life. Mutations in the BRCA1 and BRCA2 genes lead to a greater chance of developing breast cancer. Individuals with these types of genetic conditions manage the changes with more frequent screening or surgery to remove the tissues the changes are most likely to affect, advises Genetics Home Reference.

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