What does autosomal recessive disease mean

Error Email field is required. Error Include a valid email address. To provide you with the most relevant and helpful information and to understand which information is beneficial, we may combine your e-mail and website usage information with other information we have about you. If we combine this information with your PHI, we will treat all of that information as PHI, and will only use or disclose that information as set forth in our notice of privacy practices.

You may opt-out of e-mail communications at any time by clicking on the Unsubscribe link in the e-mail. Our Housecall e-newsletter will keep you up-to-date on the latest health information. Mayo Clinic does not endorse companies or products. A mutation in a gene on one of the first 22 nonsex chromosomes can lead to an autosomal disorder. Genes come in pairs. One gene in each pair comes from the mother, and the other gene comes from the father.

Recessive inheritance means both genes in a pair must be abnormal to cause disease. People with only one defective gene in the pair are called carriers. These people are most often not affected with the condition.

However, they can pass the abnormal gene to their children. If you are born to parents who both carry the same autosomal recessive gene, you have a 1 in 4 chance of inheriting the abnormal gene from both parents and developing the disease. People with CF produce abnormally thick and sticky mucus that can damage body organs.

The mucus interrupts the function of vital organs, especially the lungs, and leads to chronic infections. CF also involves the pancreas and causes decreased absorption of essential nutrients and can cause reproductive system damage. With improved treatment and management of the disease, affected people may live well into adulthood. Ultimately, death most often occurs from respiratory failure.

Other people with variants of CF may have only lung involvement, sinusitis, or infertility. Sickle cell anemia is another common, inherited, single-gene disorder found mostly in African Americans. About 1 in African-American babies is born with sickle cell anemia. About 1 in 12 African Americans carries the gene for this disease.

Sickle cell disease involves the hemoglobin in the red blood cells and their ability to carry oxygen. Normal red blood cells are smooth, round, and flexible, like the letter "O. Sickle cells are stiff and sticky. Legal Requirements. Step 3: Peer Review and Funding Outcomes. Manage Your Award. Grants Management Contacts. Prior Approvals. Annual Reporting and Auditing. Transfer of a Grant. Grant Closeout. Cancer Training at NCI. Resources for Trainees. Funding for Cancer Training.

Building a Diverse Workforce. National Cancer Act 50th Anniversary Commemoration. Resources for News Media. Media Contacts. Cancer Reporting Fellowships. Advisory Board Meetings. Social Media Events. Cancer Currents Blog. Contributing to Cancer Research. Strategic Planning. Principal Deputy Director's Page. Previous NCI Directors.

NCI Frederick. Advisory Boards and Review Groups. NCI Congressional Justification. Current Congress. Committees of Interest. Legislative Resources.

Recent Public Laws. Search Search. Cancer Information Summaries.