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Home / Health Conditions / Sickle Cell Disease / Heredity and Sickle Cell Disease: What You Need To Know

Heredity and Sickle Cell Disease: What You Need To Know

sickle cell graphicSickle cell disease is the most common inherited blood disorder
in the United States. Approximately 80,000 Americans have the
disease.

In the United States, sickle cell disease is most prevalent among African Americans. About one in 12 African Americans and about one in 100 Hispanic Americans carry the sickle cell trait, which means they are carriers of
the disease.

Sickle cell disease is caused by a mutation in the hemoglobin-Beta gene found on chromosome 11. Hemoglobin transports oxygen from the lungs to other parts of the body. Red blood cells with normal hemoglobin
(hemoglobin-A) are smooth and round and glide through blood vessels.

In people with sickle cell disease, abnormal hemoglobin molecules – hemoglobin S – stick to one another and form long, rod-like structures. These structures cause red blood cells to become stiff, assuming a sickle shape. Their shape causes these red blood cells to pile up, causing blockages and damaging vital organs and tissue.

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Sickle cells are destroyed rapidly in the bodies of people with the disease, causing anemia. This anemia is what gives the disease its commonly known name – sickle cell anemia.

The sickle cells also block the flow of blood through vessels, resulting in lung tissue damage that causes acute chest syndrome, pain episodes, stroke and priapism (painful, prolonged erection). It also causes damage to the
spleen, kidneys and liver. The damage to the spleen makes patients – especially young children – easily overwhelmed by bacterial infections.

A baby born with sickle cell disease inherits a gene for the disorder from both parents. When both parents have the genetic defect, there’s a 25 percent chance that each child will be born with sickle cell disease.

If a child inherits only one copy of the defective gene (from either parent), there is a 50 percent chance that the child will carry the sickle cell trait. People who only carry the sickle cell trait typically don’t
get the disease, but can pass the defective gene on to their children.

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New Treatments Prolong Life:
Until recently, people with sickle cell disease were not expected to survive childhood. But today, due to preventive drug treatment, improved medical care and aggressive research, half of sickle cell patients live beyond 50 years.

Treatments for sickle cell include antibiotics, pain management and blood transfusions. A new drug treatment, hydroxyurea, which is an anti-tumor drug, appears to stimulate the production of fetal hemoglobin, a type of hemoglobin usually found only in newborns. Fetal hemoglobin helps prevent the “sickling” of red blood cells. Patients treated with hydroxyurea also have fewer attacks of acute chest syndrome and need fewer blood transfusions.

Bone Marrow Transplantation: The Only Cure:
Currently the only cure for sickle cell disease is bone marrow transplantation. In this procedure a sick patient is…

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