Sickle cell disease (SCD) is a genetic blood disorder caused by a mutation in hemoglobin, the protein responsible for carrying oxygen throughout the body. In SCD, the sickled red blood cells are less flexible than normal red blood cells. As a result, they become rigid and sticky, causing them to block small blood vessels and interfere with the flow of blood. Because the symptoms of SCD vary depending on the severity of the condition, individuals with SCD may experience milder forms of the disease or no symptoms at all.
Symptoms
The most
common symptom of SCD is pain crisis, which occurs when the sickled cells clog
smaller blood vessels and cause inflammation. Pain crises are often triggered
by minor injuries or infections, and can last anywhere from hours to days.
Other symptoms of SCD include fever, fatigue, headaches, and joint pain.
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Causes
Most people
have two copies of each gene, one inherited from their mother and one from
their father. If both parents carry the same mutated gene, then the child
receives only one copy of the defective gene. However, if one parent carries
the mutant gene, then the child inherits the defective gene from that parent.
Treatment
There is
currently no cure for SCD. Treatment focuses on managing the symptoms of the
disease and preventing complications. Individuals who receive treatment early
in life may not develop many of the symptoms associated with SCD.
Prevention
Because there
is currently no cure for sickling disorders, prevention is the best way to
manage the disease. To prevent SCD, couples should avoid having children who
inherit the defective gene. Additionally, those with the sickle cell trait
should take precautions to reduce the risk of developing the disease.