What does autosomal recessive disease mean?

Autosomal recessive is one of several ways that a trait, disorder, or disease can be passed down through families. An autosomal recessive disorder means two copies of an abnormal gene must be present in order for the disease or trait to develop.

How are genes affected in autosomal recessive inheritance?

In autosomal recessive inheritance, variants occur in both copies of the gene in each cell. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition.

Can a child have autosomal recessive if only one parent has it?

“Autosomal recessive” means that for a child to have this disorder, both parents must have and pass along the gene mutation. If only one parent carries the mutated gene, the child will not get the disorder, although the child may get the gene mutation.

Can you get tested for autosomal recessive disease?

Screening for many autosomal recessive diseases is available. You may get tested if you have high odds of being a carrier of the disease, or if you just want to know the risk of having a child with one of these diseases. A DNA test can check to see if you and your partner carry any of the mutated genes that may cause your child to have a disease.

When does autosomal recessive Hyper IgE syndrome occur?

Autosomal recessive hyper IgE syndrome (AR-HIES) is a very rare primary immunodeficiency disorder. Symptoms often become apparent at birth or early during infancy or childhood. The disorder is characterized by the triad of highly elevated levels of IgE in serum, recurring abscesses of the skin,…

Which is the most common autosomal recessive disorder in African Americans?

Common autosomal recessive disorders include: Sickle cell disease: About 1 in 12 African-American people are carriers of this disease. One in 500 African-American babies is born with it. Sickle cell causes your red blood cells to be stiff and sticky so they can’t easily move oxygen through your body.