Autosomal recessive inheritance

O
Autosomal recessive is one of several ways that a trait, disorder, or disease can be passed
down through families.
DAnautosomal recessive disorder means two copies of an abnormal gene must be present in
order for the disease or trait to develop.
O Inheriting a specific disease, condition, or trait depends on the type of chromosome that is
affected. The two types are autosomal chromosomes and sex chromosomes. It also depends on
whether the trait is dominant or recessive.

DA mutation in a gene on one of the first 22 non sex chromosomes can lead to an autosomal
disorder.

Oit's Fairly rare in populations.

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O
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.
O
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.
Characteristics of Autosomal recessive
inheritance

Omales and females have the condition in roughly equalproportions.

people with the condition are usually in one sib-ship in one generation.
O
consanguinity, where both parents have one or more ancestors in common, increases the
chance that a condition presenting in a child of theirs might be due to both parents being
carriers for the same recessive gene alteration.
 cystic fibrosis (CF)
OCystic fibrosis (CF) is a common, inherited, single-gene disorder, in white race.
D People with CF produce mucus that is abnormally thick and sticky that can damage body
organs.

O
The mucus interrupts the function of vital organs, especially the lungs, and leads to chronic
infections.
DCF also involves the pancreas and causes decreased absorption of essential nutrients and can
cause reproductive system damage.
O 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
OSickle cell anemia is another common, inherited, single-gene disorder found mostly in African
Americans.

DAbout 1l in 500 African-American babies is born with sickle cell anemia. About l in 12 African
American people carries the gene for this disease.
OSickle cell disease involves the hemoglobin in the red blood cells, and their ability to carry
oxygen.

ONormal red blood cells cells are smooth, round, and flexible, like the letter "0." They can
easily move through the vessels in our bodies.
 O
Sickle cells are stiff and sticky.When they lose their oxygen, they form into the shape of a
sickle, or the letter "C."
These sickle cells tend to cluster together and can't easily move through the blood vessels.
O
The cluster causes a blockage and stops the movement of healthy, normal, oxygen-carrying
blood.

UThis blockage is what causes the painful and damaging complications of sickle cell disease.

Normat Red Blood Cel Sickle Celt

 OSicklecells live only for about 15 days. Normal hemoglobin cels can live up to 120 days.
OSickle cells risk being destroyed by the spleen because of their shape and stiffness.
OThe spleen helps filter the blood of infections. Sickle cells get "stuck" in this filter and die.
DDue to the decreased number of hemoglobin cells circulating in the body, a person with sickle
cell is chronically anemic.
 O
The spleen also suffers damage from the sickle cells, which block the healthy oxygen-carrying
cells, after repeated blockages, the spleen is very small and does not work properly.
OWithout a functioning spleen, these people are more at risk for infections.
O
Infants and young children are at risk for life-threatening infections.
O Treatment includes prompt emergency care for fevers and infections, appropriate
vaccinations, penicillin, and management of anemia.