Sickle Cell Anemia

What is Sickle Cell Anemia?

Sickle cell anemia is a genetic blood disorder that affects how your red blood cells work. In healthy people, red blood cells are round and flexible. They move easily through blood vessels to carry oxygen throughout your body. People with sickle cell anemia produce abnormal hemoglobin, the protein that carries oxygen in red blood cells.

This abnormal hemoglobin makes red blood cells become rigid and shaped like a crescent or sickle. These sickle-shaped cells get stuck in small blood vessels. This blocks blood flow and prevents oxygen from reaching tissues and organs. The sickle cells also die much faster than normal red blood cells, leading to chronic anemia.

Sickle cell anemia is inherited, meaning it passes from parents to children through genes. You must inherit the sickle cell gene from both parents to develop the condition. It primarily affects people of African, Mediterranean, Middle Eastern, and Indian ancestry. Without proper management, the condition can cause serious health problems throughout life.

Sickle Cell Test

Detect sickle cell disease early
Clarify unexplained pain or fatigue
Confirm your genetic health status

^$42

Viscosity, Serum

Measures blood thickness and flow.
Checks blood's ease of circulation.
Detects blood clots and blockages.

^$300

Symptoms

Episodes of severe pain, called pain crises, in the chest, abdomen, joints, or bones
Fatigue and weakness due to chronic anemia
Swelling and pain in hands and feet
Frequent infections
Delayed growth and puberty in children
Vision problems
Jaundice, a yellowing of the skin and eyes
Shortness of breath
Dizziness or lightheadedness
Pale skin color

Symptoms usually appear in early childhood, often around 5 to 6 months of age. The severity varies widely between individuals. Some people have mild symptoms while others experience frequent, severe complications.

Causes and risk factors

Sickle cell anemia is caused by a mutation in the gene that tells your body how to make hemoglobin. This genetic mutation is inherited from your parents. You must receive two copies of the sickle cell gene, one from each parent, to develop the disease. People who inherit only one sickle cell gene have sickle cell trait but usually don't develop the full disease.

Several factors can trigger pain crises and complications in people who have sickle cell anemia. Dehydration can make blood more viscous and increase sickling. Extreme temperatures, high altitudes, stress, and infections can trigger symptoms. Strenuous physical activity and low oxygen levels may also worsen the condition. While you cannot prevent the genetic cause, understanding triggers helps manage the condition better.

How it's diagnosed

Sickle cell anemia is usually diagnosed through blood tests. A sickle cell screen can detect the presence of abnormal hemoglobin in the blood. This test identifies whether sickle hemoglobin is present. In the United States, newborn screening programs test all babies for sickle cell disease shortly after birth. Early diagnosis allows for prompt treatment and prevention of complications.

Additional tests may measure serum viscosity, which shows how thick the blood is. Sickle cells can increase blood thickness because they stick together and block vessels. A complete blood count may reveal anemia and other blood cell abnormalities. Genetic testing can confirm the diagnosis and identify the specific type of sickle cell disease. Talk to a doctor about testing options and genetic counseling if you have a family history of sickle cell disease.

Treatment options

Hydroxyurea medication to reduce pain episodes and the need for blood transfusions
Pain management with over-the-counter or prescription pain relievers during crises
Preventive antibiotics, especially in young children, to reduce infection risk
Regular vaccinations to prevent infections
Blood transfusions to treat severe anemia and prevent complications like stroke
Folic acid supplements to help produce new red blood cells
Drinking 8 to 10 glasses of water daily to prevent dehydration
Avoiding extreme temperatures and high altitudes
Regular exercise at moderate intensity
Bone marrow or stem cell transplant, the only potential cure, for eligible patients

Frequently asked questions

Sickle cell anemia occurs when you inherit two sickle cell genes, one from each parent. Sickle cell trait means you inherited only one sickle cell gene and one normal gene. People with sickle cell trait usually don't have symptoms and live normal lives. However, they can pass the sickle cell gene to their children.

A bone marrow or stem cell transplant is currently the only potential cure for sickle cell anemia. This procedure replaces diseased bone marrow with healthy marrow from a compatible donor. However, the procedure carries significant risks and is not suitable for everyone. Gene therapy is also showing promise as a potential cure in clinical trials.

Sickle cell anemia follows an autosomal recessive pattern of inheritance. Both parents must carry at least one sickle cell gene to pass the disease to their child. If both parents have sickle cell trait, each child has a 25% chance of having sickle cell anemia, a 50% chance of having sickle cell trait, and a 25% chance of having normal hemoglobin.

Pain crises occur when sickle-shaped cells block blood flow through small vessels. Common triggers include dehydration, infections, stress, extreme temperatures, and high altitudes. Low oxygen levels from strenuous exercise or airplane travel can also trigger crises. Some pain episodes occur without an obvious trigger.

Pain crises typically last from a few hours to several days. The average duration is about 5 to 7 days. Some people experience brief episodes while others have pain that lasts weeks. Proper hydration, pain management, and rest can help shorten the duration of crises.

No, sickle cell anemia is a genetic condition you are born with. Symptoms usually appear in early childhood around 5 to 6 months of age. You cannot develop sickle cell anemia later in life if you were not born with it. However, symptoms and complications may change or worsen over time in people who have the condition.

Life expectancy has improved significantly with modern treatment. Many people with sickle cell anemia now live into their 50s and beyond. Early diagnosis, preventive care, and new medications have extended lifespan and improved quality of life. Regular medical care and adherence to treatment plans are essential for better outcomes.

Yes, moderate exercise is generally safe and beneficial for people with sickle cell anemia. Light to moderate activities like walking, swimming, and yoga are good options. Avoid strenuous exercise that causes extreme fatigue or dehydration. Stay well hydrated, avoid extreme temperatures, and take breaks as needed during physical activity.

A sickle cell screen is the primary test used to detect abnormal hemoglobin. This test identifies the presence of sickle hemoglobin in the blood. Additional tests may include hemoglobin electrophoresis, which identifies specific types of hemoglobin, and a complete blood count to assess anemia. Serum viscosity tests may measure blood thickness caused by sickle cells.

Yes, pregnancy carries increased risks for women with sickle cell anemia. Risks include more frequent pain crises, infections, high blood pressure, and preterm birth. Close monitoring by a healthcare team specializing in high-risk pregnancies is essential. With proper medical care, many women with sickle cell anemia have successful pregnancies and healthy babies.