Sickle cell disease (SCD) is a hereditary disease in which there are fewer healthy red blood cells that transport oxygen throughout the body.
In a healthy person, hemoglobin is smooth, flexible and round. In SCD, a person has abnormal hemoglobin called hemoglobin S or sickle hemoglobin in their red blood cells (RBCs). This abnormal hemoglobin is malformed and looks like sickles. These red blood cells are hard and sticky. Therefore, these red blood cells can get stuck on the way through small blood vessels and prevent blood and oxygen in the body parts. This causes severe pain and damages important organs. These sickle cells die earlier than healthy cells. Usually, the spleen filters the infection from the blood. These sickle cells are stuck in anger. They also damage the spleen and cause serious life-threatening infections. Less healthy red blood cells cause anemia.
This condition is widespread in India, and our country has the highest number of gene carriers in the world. The disease is a major public health problem in states such as Chhattisgarh, Odisha, Maharashtra, Gujarat, Madhya Pradesh and Telangana and is common in the tribal population. Research by the Indian Council of Medical Research (ICMR) shows that about 20% of children with SCD die at the age of two. There is a need to raise awareness of the disease, the importance of timely prenatal diagnosis and carrier screening, as well as ways to effectively treat the condition to reduce mortality.
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What is SCD?
It is a hereditary disease caused by a defect in a gene. The child has SCD when the two defective genes are inherited from each parent. If only one defective gene is inherited, a person has sickle cell characteristics. As a rule, they have no symptoms, are carriers of the disease and can transmit the disease to their children. If two carriers have a child, they are more likely to have SCD. Contact your doctor if you or your spouse has SCD or if it is in your family. If you are planning to become pregnant, your doctor will recommend you for genetic counseling. Women who suffer from SCD and are pregnant should be treated with care as early as possible to find and resolve problems. Your baby should be tested for SCD during pregnancy.
Symptoms of SCD
The following symptoms occur with SCD:
- Painful swelling of the hands and feet
- Difficulty breathing through anemia
- Chronic pain
- Yellowing of the skin
- White eyes
- Jaundice and organ damage
Most treatments aim to relieve symptoms and complications. The only known cure for SCD is bone marrow or stem cell transplantation. Healthy bone marrow cells are taken from a person without SCD (the donor) and given to the sick person.
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Treating Sickle Cell Disease
As with any other condition, there are a few things SCD sufferers need to consider to avoid worsening their symptoms:
- Consult your doctor regularly.
- A good nutritious diet, adequate sleep, adequate hydration, and daily physical activity are key aspects in the treatment of SCD. However, do not perform strenuous activities without consulting the attending physician.
- Stay away from all tobacco products.
- Drink alcohol in moderation.
- Avoid situations that can trigger a crisis. Eg extreme temperatures. It is best not to do too much and to rest properly.
- Do not travel in a pressureless cabin.
- Make sure you follow the medication plan.
- For signs of fever, respiratory problems, spleen enlargement, and sudden vision loss, seek immediate medical attention and severe anemia.
- The pain associated with SCD varies between each individual. Understand how to treat your pain in consultation with a specialist. SCD can be a debilitating condition and therefore decrease over time. It is important to talk about how you feel with someone you are close to.
SCD is a lifelong disease, but there are ways to reduce its effects and prolong the lives of affected children. While efforts can be made to treat SCD on a personal level, a proper mechanism at national level can ensure that the disease is screened in a timely manner. Newborn screening should also be prescribed in all health facilities across the country.
With contributions by Dr. med. S. Priya, Senior Physician, Medlife.com
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Written by Vani Malik
Source: Editorial staff of Onlymyhealth July 03, 2019