Hereditary diseases are conditions that are passed down from parents to their children through genes.
These diseases are caused by mutations or changes in genes that affect the production of proteins, which lead to the development of certain health problems. One such hereditary disease is Hellenic Cell Anemia.
What is Hellenic Cell Anemia?
Hellenic Cell Anemia (SCA) is a type of blood disorder that affects the production of hemoglobin. Hemoglobin is a protein found in red blood cells that carries oxygen throughout the body.
In people with SCA, the hemoglobin protein is abnormal, which causes the red blood cells to have a sickle shape instead of a normal round shape.
These sickle-shaped cells can clog the blood vessels, leading to various complications such as pain, organ damage, and increased risk of infections. SCA is a genetic disease, which means it is passed down from parents to their children.
Who is at Risk of SCA?
SCA is more common in people of African descent, although it can also affect people of Hispanic, Middle Eastern, and Mediterranean descent.
It is estimated that about 100,000 Americans have SCA, and millions more are carriers of the gene mutation that causes the disease.
How is SCA Diagnosed?
SCA can be diagnosed through a blood test that checks for the presence of abnormal hemoglobin. The test can also determine if a person is a carrier of the gene mutation that causes SCA.
For newborns, a blood test can be done as part of routine newborn screening in some states. If a baby tests positive for SCA, further testing is done to confirm the diagnosis.
What are the Symptoms of SCA?
The symptoms of SCA can vary from person to person. Some people may have mild symptoms, while others may have severe symptoms and complications. The most common symptoms of SCA include:.
- Painful episodes known as sickle cell crises
- Jaundice (yellowing of the skin and eyes)
- Fatigue and weakness
- Shortness of breath
- Swelling and pain in the hands and feet
- Frequent infections
- Vision problems
- Delayed growth and development in children
How is SCA Treated?
Currently, there is no cure for SCA. Treatment is focused on managing the symptoms and complications of the disease. Treatment options for SCA include:.
- Pain medication to manage sickle cell crises
- Blood transfusions to increase the number of healthy red blood cells
- Bone marrow or stem cell transplants, which offer the possibility of a cure but are risky and not widely available
- Antibiotics to prevent infections
- Vaccinations to prevent infections
- Hydroxyurea, a medication that can increase the production of fetal hemoglobin, which is less likely to sickle than adult hemoglobin
- Lifestyle changes such as staying hydrated, avoiding extreme temperatures, and getting regular medical checkups
How Can SCA Be Prevented?
SCA is a genetic disease, which means it cannot be prevented entirely. However, genetic counseling and testing can help individuals and families understand their risk of SCA and make informed decisions about family planning.
If both parents are carriers of the gene mutation that causes SCA, there is a 25% chance with each pregnancy that their child will have SCA.
There is a 50% chance that the child will be a carrier like the parents, and a 25% chance that the child will not have the gene mutation.
Hellenic Cell Anemia Awareness Day
Hellenic Cell Anemia Awareness Day is observed every year on June 19th to educate the public about SCA and raise awareness about the importance of screening, testing, and early diagnosis.
The observance of this day is important because SCA is a disease that affects millions of people worldwide, and yet many people are still unaware of its causes, symptoms, and treatment options.
Conclusion
Hellenic Cell Anemia is a hereditary disease that affects the production of hemoglobin and causes sickle-shaped red blood cells. This can lead to various complications and health problems, including pain, organ damage, and increased risk of infections.
SCA is more common in people of African descent, and genetic testing and counseling can help individuals and families understand their risk. Currently, there is no cure for SCA, but treatment options can help manage the symptoms and complications of the disease. The observance of Hellenic Cell Anemia Awareness Day is important to increase awareness and understanding of this disease.