The National Heart, Lung and Blood Institute
and Sickle Cell Disease
I choose this topic because my niece has sickle cell,
both her parents has the sickle cell trait.
She is now fourteen years old, due to the numerous times my niece has
had to stay in the hospital because of this disease my sister recently
participated in a trial duty that has resulted in a prescribed drug that has
helped reduced the amount of crisis that she’s had within the last several
years. The National Heart Lung and Blood Institute (NHLBI) has
researched sickle cell disease since its founding as the National Heart
Institute in 1948. NHLBI has spent more than $1 billion researching the
condition.
Sickle
cell disease is inherited. People who have the disease inherit two copies of
the sickle globin gene—one from each parent. The gene codes for production of
an abnormal hemoglobin. Persons affected with this condition produce abnormal
red blood cells containing hemoglobin S instead of normal hemoglobin A. When
red cells with Hemoglobin S lose their oxygen, they become distorted and shaped
like crescents or sickles. These cells are sticky and can block blood vessels,
leading to organ damage, and severe episodes of pain known as crises. Sickle cell disease causes life-long anemia. Persons with sickle cell disease are at risk
of pneumonia, bone infections, and other infections.
Sickle
cell disease lowers quality of life for thousands of American families. The genetic blood disorder affects
70,000–100,000 Americans, the majority of whom are African American or
Hispanic. Sickle cell disease is most common in people whose families come from
Africa, South or Central America, Caribbean islands, Mediterranean countries,
India, and Saudi Arabia. Sickle cell
disease occurs in approximately one out of every 500 African American births
and one out of every 36,000 Hispanic American births. About 2.5 million people in the United States
have sickle cell trait, which occurs when a person inherits one copy of the
globin gene.
Bone
marrow transplants offer a cure for sickle cell disease for some patients, but
due to a scarcity of matched donors, it is not a cure for everyone. Researchers
are working on ways to make this cure more widely available.
Research
has helped patients live longer. In the 1970s, life expectancy for individuals
with sickle cell disease was about 14 years. Today, many individuals live into
their 40s and longer. Antibiotics to prevent and treat infections have reduced
childhood deaths from the disease by more than 80 percent. A blood screening
test done on newborns is now performed in all U.S. Research on the condition
has advanced other areas of medicine including genetics and molecular biology. The NHLBI is supporting research on more and
better treatments to ease the burden of sickle cell disease on those affected. Current
research is exploring ways to reduce the risks of serious complications,
including stroke, hypertension, respiratory problems, and vulnerability to
overwhelming bacterial infections.
To find out more about this disease log onto http://www.nhlbi.nih.gov/health/health-topics/topics/sca/