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In the United States, sickle cell disease affects around 100,000 people, primarily those of African descent. It is a genetic disorder that affects the red blood cells, causing them to be misshapen and unable to properly carry oxygen throughout the body.

What is sickle cell disease?

Sickle cell disease is a group of genetic blood disorders that affects the production of hemoglobin, the protein in red blood cells that is responsible for carrying oxygen throughout the body. People with sickle cell disease have a mutation in one or both copies of the gene that codes for beta-globin, a component of hemoglobin.

The mutation causes the hemoglobin molecules to stick together, forming long, rigid structures that deform the red blood cells into a crescent or sickle shape. These misshapen cells can get stuck in small blood vessels, leading to episodes of pain, tissue damage, and an increased risk of infections.

Statistics and facts on sickle cell disease

Here are some key statistics and facts about sickle cell disease:

• Approximately 100,000 Americans are affected by sickle cell disease.
• Sickle cell disease occurs in about 1 in every 365 African American births and 1 in every 16,300 Hispanic American births.
• The disease is also found in people of Middle Eastern, Indian, and Mediterranean descent.
• Babies born with sickle cell disease may show symptoms within the first year of life.
• People with sickle cell disease are at increased risk for stroke, acute chest syndrome, and infections.
• Treatments for sickle cell disease include pain relief, blood transfusions, and bone marrow transplants.

Newborn screening for sickle cell disease

Early detection and treatment of sickle cell disease is crucial for preventing serious complications and improving patients’ quality of life. One way to identify infants with sickle cell disease is through newborn screening, a process of testing newborns for certain genetic disorders before they show symptoms.

In the United States, all newborns are screened for sickle cell disease as part of their routine newborn screening. However, in many parts of the world, sickle cell disease goes undetected and untreated, leading to high rates of morbidity and mortality.

Improving newborn sickle cell screening in Africa

Efforts are underway to improve newborn sickle cell screening in Africa, where the disease is most prevalent. One such initiative is the Sickle Cell Disease Newborn Screening Africa Project, a collaboration between the African Society of Laboratory Medicine and the Centers for Disease Control and Prevention (CDC).

The project aims to establish sustainable newborn screening programs in several African countries, including Cameroon, Ghana, Kenya, Tanzania, and Uganda. By leveraging existing laboratory infrastructure and building local capacity, the project seeks to improve early detection and treatment of sickle cell disease in Africa.

Conclusion

Sickle cell disease is a serious genetic blood disorder that affects millions of people worldwide. With early detection and proper treatment, many of the complications of sickle cell disease can be prevented or minimized. Initiatives like the Sickle Cell Disease Newborn Screening Africa Project are working to improve newborn screening and increase access to care for those affected by sickle cell disease. By raising awareness and investing in research and intervention efforts, we can help improve the lives of those living with sickle cell disease.

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