Sickle cell disease (SCD) is a hereditary disorder where there are lesser healthy red blood cells to carry oxygen throughout the body.
In a healthy person, haemoglobin is smooth, flexible and round. In SCD, a person has abnormal haemoglobin, called haemoglobin S or sickle haemoglobin in their red blood cells (RBCs). This abnormal haemoglobin is misshapen and looks like sickles. These red blood cells are hard and sticky. Hence these red blood cells can get stuck when travelling through small blood vessels so it can obstruct blood and Oxygen to the part of the body. This leads to severe pain and damages significant organs. These sickle cells die sooner than healthy cells. Usually, the spleen filters infection out of the blood. These sickle cells get stuck in anger. They damage spleen also, and it leads to serious life-threatening infections. Fewer healthy red blood cells cause anaemia.
This condition is quite prevalent in India, and our country has the highest number of gene carriers in the world. The condition is a major public health issue in states such as Chhattisgarh, Odisha, Maharashtra, Gujarat, Madhya Pradesh, and Telangana, and has a high incidence among the tribal population. Research by the Indian Council of Medical Research (ICMR) indicates that about 20% of children with SCD die by the time they are two years old. There is a need to raise awareness about the condition, the importance of timely prenatal diagnosis and carrier screening and ways to effectively manage the condition to reduce mortality.
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What is SCD?
It is an inherited disease caused by a defect in a gene. The child will have SCD if the two defective genes are inherited from each parent. If only one defective gene is inherited, a person will have sickle cell trait. Typically, they ’don’t have any symptoms, and they are carriers of the disease, and they can transfer the disease to their kids. If two carriers have a child, there is a higher chance that their child will have SCD. Consult with your doctor if you or your spouse has SCD or if it runs in your family. If you are trying to conceive, your doctor will recommend you for genetic counselling. Women who have SCD and are pregnant should get proper care to find and manage problems at the earliest. Your baby should be tested for SCD during pregnancy.
Symptoms of SCD
Following are some of the symptoms of SCD:
- Painful swelling of the hands and feet
- Breathing difficulty due to anaemia
- Chronic pain
- Yellowing of the skin
- Whites of the eyes
- Jaundice and organ damage
Most treatment aims to reduce symptoms and complications. The only known cure for SCD is a bone marrow or stem cell transplant. In this process, healthy bone marrow cells are taken from a person who does not have SCD (the donor) and given to the person with the disease.
Managing Sickle Cell Disease
Just as with any other condition, there are a few things that people with SCD must keep in mind, to prevent the symptoms from becoming worse:
- Consult your doctor regularly
- A good and nourishing diet plan, proper sleep, adequate hydration and daily physical activity are essential aspects in managing SCD. However, one should not undertake any strenuous activity without consulting their treating doctor.
- Stay clear of all tobacco-related products.
- Drink alcohol in moderation.
- Avoid situations that may set off a crisis such as exposure to extreme temperatures. It is best not to exert too much and get proper rest.
- Do not travel in an unpressurised aircraft cabin.
- Make sure that you adhere to the medication schedule.
- Visit your doctor immediately in case of any signs such as fever, breathing issues, splenic enlargement, sudden vision loss and severe anaemia.
- The pain that accompanies SCD is different in each person. Understand how you can manage your pain in consultation with a specialist. SCD can be a debilitating condition and therefore, depressing over time. It is essential to talk about how you feel with someone you are close to.
SCD is a lifelong ailment, but there are ways to contain its impact and prolong the life of affected children. While one can make efforts to manage SCD at a personal level, an adequate mechanism at a national level can ensure that the disease is screened on time. Newborn screening should also be made mandatory in all healthcare institutions across the country.
With inputs from Dr S. Priya, Senior Consultant Physician, Medlife.com
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