Sickle cell anemia is a specific type of inherited blood disorder called sickle cell disease. It transforms normally flexible round red blood cells into rigid and sticky sickled cells, hindering oxygen transport. This leads to anemia, with fewer and shorter-lived red blood cells. Modern treatments allow many to live into their 50s, but severe complications still exist, especially in regions lacking access to adequate medical care.
Sickle cell anemia is relatively rare in the United States, impacting approximately 100,000 individuals. It primarily affects those with ancestry tracing back to regions where malaria is common and people carry a gene that offers partial protection against anemia while causing sickle cell anemia itself. In the U.S., this condition predominantly affects individuals of African descent, but it can also occur in people with Southern European, Middle Eastern, or Asian Indian backgrounds.
Sickle cell anemia initially may not show symptoms in babies until several months after birth. When symptoms do emerge, they include severe fatigue or irritability due to anemia, painful swelling of the hands and feet, and jaundice. Babies with this condition may also experience spleen damage, compromising their immune system and making them more susceptible to bacterial infections. As individuals with sickle cell anemia grow older, they face the risk of developing more severe medical complications due to inadequate oxygen delivery to organ tissues. This increases the likelihood of stroke and damage to the lungs, kidneys, spleen, and liver .
Sickle cell anemia comes from genes passed by parents. If both parents pass the gene, you get sickle cell anemia. If one parent passes it, you have the sickle cell trait.
The gene change causes:
1. Abnormal hemoglobin that clumps in red blood cells.
2. Stiff red blood cells that can block blood vessels.
3. Shorter life for these cells, leading to a lack of red blood cells.
When you have sickle cell anemia, you can experience various health problems. These often begin when you're a baby and continue as you get older. It's essential to recognize these issues early so that doctors can help.
1. Painful Crises (VOC): These are intense, sudden pains that can occur anywhere in your body, like your belly or arms. Think of them as severe cramps that need strong pain medicine to ease. Sometimes, it's hard for others to see how much you're hurting because you might not look sick.
2. Breathing Trouble (ACS): This is a serious problem where your lungs get clogged with sickled blood cells. It feels like a painful chest, a cough, fever, and makes it tough to breathe. ACS can be very risky and needs quick medical attention.
These health issues can be tough to deal with, and some people might not understand them well. Sadly, there are also challenges because of the stigma around using strong pain medicine.
symptoms and complications
- Anemia: People with sickle cell anemia may appear paler, feel unusually tired, and have trouble breathing.
- Stroke: Individuals with sickle cell anemia, including children, are at risk for strokes, which can cause severe headaches, weakness on one side of the body, changes in alertness, speech or vision difficulties.
- Splenetic Sequestration: This occurs when sickled cells block the spleen, leading to abdominal pain and spleen enlargement, often visible or felt.
- Bacterial Infections: Increased risk for certain infections with symptoms like fever, coughing, bone pain, and headaches.
- Leg Ulcers: Some individuals may develop painful sores, usually on the ankles.
- Pulmonary Hypertension (PH): A condition affecting 6-11% of those with sickle cell anemia, causing symptoms such as a racing pulse, fainting, and difficulty
breathing during activity or rest.
- Sickle cell anemia can lead to kidney problems, making you pee more often, feel tired, and have swollen hands and feet.
- It can also cause eye issues, like seeing flashes of light or many floating spots.
Doctors diagnose it with blood tests.
- If both you and your partner have the sickle cell trait, your child has a 1 in 4 chance of having sickle cell anemia. If only one of you has it, your child won't have the disease but might carry the trait. This trait is more common in Black communities.
Healthcare providers typically use various treatments for sickle cell anemia, including blood transfusions, antibiotics for infections, and medications to reduce its symptoms and complications. These drugs may include hydroxyurea, voxlelotor, L-glutamine therapy, and crizanlizumab.
In the past, sickle cell anemia had a grim outlook, with many not surviving past age 5. However, early diagnosis and treatment now help people with this condition live into their 50s. Nevertheless, their life expectancy is still 20 to 30 years less than those without sickle cell anemia.
Pain management is a significant challenge for individuals with this condition, as they often deal with acute pain from blocked blood flow (VOC) or chronic pain lasting over three to six months. Seeking help from a pain management specialist can provide strategies to cope with chronic pain.
0 Comments