Sickle cell disease is an inherited condition characterized by abnormally shaped red blood cells. Normally, these cells are round discs yet in sickle cell disease they take on the shape of a sickle or crescent moon.
The sickle-shaped best Gynecologist doctor in Indore cells cause problems because:
- They are stiff and sticky and, when they gather together, form small clots (blood vessels blocking) that cause pain and organ damage.
- Iron-deficient patients may feel exhausted and weak. This is due to the fact that iron deficiencies cause too few red blood cells, what doctors call anemia.
Sickle cell disease is most commonly associated with two symptoms: pain, and anemia. Pain caused by Sickle Cell Disease is called a “crisis” event, or a vaso-occlusive crisis.
In the event of a crisis of Pain:
- Pain can occur in any part of your body.
- Pain can often be caused without a clear-cut cause. Things like cold, stress, illness or dehydration might trigger the pain..
- The pain typically lasts a few hours, a few days, or sometimes more.
Signs of anemia include:
- Paleness, which can be seen in the skin, nails or lips
- Being short of breath
- Feeling lightheaded
- Being irritable
- Trouble paying attention
- A fast heartbeat
People with sickle cell anemia may develop jaundice. They do this because they are hosts to sickle-shaped red blood cells which break down faster than regular ones.
What Problems Can Happen?
People with sickle cell disease might experience issues that could require medical intervention from a physician. These symptoms can include:
- Acute chest syndrome: This is caused by inflammation, infection or a blockage of the small blood vessels in the lung. Signs include chest pain, coughing, difficulty breathing and fever.
- Aplastic crisis: Low levels of red blood cells may make you feel tired, have a fast heartbeat, and be pale. This condition is called anemia or lack of red blood cells
- Hand-foot syndrome: This symptom associated with sickle cell anemia – a painful swelling of the fingers and toes (also called dactylitis) – can first be detected in infants.
- Infection: Kids with sickle cell disease should be aware of specific infections and if they show signs. Hanging the fever chart in their room is a good way to keep track of it. Get medical care as soon as possible if a fever reaches 101°F (38°C) or higher
- Priapism: Males with sickle cell disease can have painful, prolonged erections, which not only hurts but can lead to damage that causes erectile dysfunction in later life. Treatment is essential–signs of a dangerous erection need to be addressed quickly and without delay.
- Splenic sequestration crisis: One of the spleen functions is to trap and dispose of abnormal red blood cells. When the number of these cells is too high, it can lead to a serious drop in red blood cells, causing symptoms such as pale skin, extreme fatigue and pain in the abdomen.
- Stroke: Sickle-shaped cells can have severe consequences for your health, including strokes. Some symptoms of a stroke can include pain, loss in sensation or movement, and slurred speech. If you or someone else is experiencing these please call for emergency assistance.
There are also several health problems people with sickle cell disease can develop, such as: leg ulcers, bone/joint damage, gallstones, kidney damage and eye damage. Children can experience delayed growth and develop delayed puberty. Signs and symptoms can vary a lot between different people with sickle cell disease, with some people having few problems at all.
What Causes Sickle Cell Disease?
Sickle cell disease is passed through families. The type of sickle cell disease a person has is determined by their parents’ hemoglobin gene. One cause of sickle cell disease is the possession of one or more genes for this condition. While it can be difficult to tell from observing someone, genetics is the only way to definitively diagnose the condition. The genes cause the body to produce defective hemoglobin that causes the red blood cells to become sickle-shaped.
How do sickle cell genes move in a family?
- A child who gets two sickle cell genes from their parents is always guaranteed to have sickle cell disease.
- A child who has received one sickle cell gene and one normal hemoglobin gene from his parents has sickle cell trait. Most people with sickle cell trait don’t have symptoms; however, they can pass the sickle cell gene to their children
- Someone who inherits the sickle cell gene from one parent and another type of abnormal gene from the other parent may develop a different form of sickle cell disease, like hemoglobin SC or another by name of sickle beta-thalassemia.
How is Sickle Cell Disease Diagnosed?
Sickle cell disease and sickle cell trait are usually detectable at birth through blood testing during routine newborn screening. A second, more specific type of blood test (the hemoglobin electrophoresis) will yield a definitive diagnosis.
Sickle cell disease can be detected before birth. A test on the amniotic fluid or a tissue sample from the placenta can detect it.
How Is Sickle Cell Disease Treated?
There are many treatments for sickle cell disease, this help to avoid problems and maintain a healthy and active lifestyle. For example:
- It’s important that children with sickle cell disease are vaccinated so they can avoid infection. Vaccines to look for are the pneumococcal, flu, coronavirus (COVID-19), and meningococcal vaccines.
- Folic acid supplements are a good way to ensure that your kids have enough red blood cells.
- Over-the-counter painkillers can provide temporary relief when used at the right time.
The doctor can recommend other treatments in this condition, like:
- Hydroxyurea, a daily medicine that makes the cells less sticky. It decreases both the frequency and intensity of painful episodes as well as other problems such as anemia, more so than other drugs normally prescribed for sickle cell disease.
- A blood transfusion, particularly in cases of severe anemia or to treat or prevent some health problems.
- voxelator, a daily medicine that helps prevent sickling of the blood and increases red blood cells by making them hold on harder to oxygen.
- The medicine “crizanlizumab (Adakveo)” helps make the red blood cells slipperier and less painful. This is an IV infusion.
- As an over-the-counter medicine, L-Glutamine helps to reduce pain.
Stem cell transplant is the only treatment that’s scientifically proven to cure sickle cell disease. Because of this, these transplants are often risky and complex but almost always successful. This option is unfortunately only available for some patients so far. Doctors and scientists conduct clinical trials to responsibly produce new medicines for treatment and prevention of diseases. They are also studying gene therapy to cure sickle cell anemia by changing or replacing the abnormal gene which causes it.
How Can Parents Help?
When your child has sickle cell disease there is a lot you can do to help:
Learn as much as possible about sickle-cell disease and tell all of your caregivers what they need to know. This includes when they should seek medical attention and warning signs to watch out for.
It is important you attend all medical visits with your child and pay close attention to any symptoms they might experience. If you notice factors such as an increase in colds, sore throats or illness episodes lasting more than a week, if they have night terrors or other unusual/non-typical behavior, if they seem anxious or withdrawn, if their appetite decreases drastically, etc.
Help your child avoid pain crisis triggers:
- Motivate your child to consume lots of liquids and take proper rest.
- When the weather is cold, your child should dress warmly and not stay out for too long.
- In hot weather, we recommend that your child limit time outdoors and drink plenty of fluids.
- Educate your child on how he/she can manage stress.
- It’s important for you to communicate with your child’s doctor and find out which activities are ok and which should be avoided. Ensure your child takes all the prescriptions from the doctor.
- Put a priority on healthy foods and physical activity. Ensure your children know not to drink alcohol, smoke cigarettes, and use drugs that can have adverse effects on both short- and long-term health