What do you know about the symptoms and treatment of sickle cell disease?
Sickle cell disease is the most common disease among people in Africa, the northern Mediterranean, India, and the Middle East. Sickle cell disease is the most common inherited blood disease. Since sickle cell disease is a genetic disorder, the only risk factor is heredity. Pre-pregnancy genetic counseling helps parents who both have this problem a lot with family planning decisions
A normal red blood cell is smooth and round and easily passes through the blood capillaries. But sickle-shaped red blood cells tend to stick together, so they don’t easily pass through the blood capillaries and stop the flow of oxygen-carrying blood.
Unlike normal red blood cells, which live for more than 120 days, sickle cells die after 10 to 20 days. This process leads to anemia during a chronic period.
What is the cause of the disease?
When the body is faced with a lack of oxygen, red blood cells change shape and become sickle-shaped and get stuck in tiny and narrow vessels, causing severe pain in various parts of the body.
Sickle cell disease is an inherited disease caused by a genetic mutation. These genes exist on a structure of cells called chromosomes. Normally, there are 46 or 23 pairs of chromosomes in each cell of our body. Chromosome 11 contains the genes responsible for the production of normal hemoglobin. A mutation or mistake in these genes leads to sickle cell disease.
This mutation is more common in parts of the world where malaria is common, although these people do not get malaria. The sickle trait protects a person against the malaria parasite. Malaria is often found in Africa and the Mediterranean regions of Europe.
A child who inherits the genetic mutation from both parents will develop sickle cell disease. A child who inherits the mutation from one parent will carry the sickle cell trait and can pass it on to their children.
Complications
Complications are seen in two forms, acute and chronic:
Acute complications: Most of the acute complications of sickle cell disease are related to vascular occlusion. A lot of pain occurs in the limbs whose small vessels are blocked. This pain can occur anywhere in the body, but it is more common in the chest, abdomen and back. Infection, dehydration, rapid temperature changes and pregnancy are usually the causes of these pains.
Obstruction of the blood vessels of the lung is considered a dangerous complication of sickle cell disease and may lead to acute chest syndrome, which is life-threatening and the person must be admitted to the hospital immediately.
Among its other major complications are cerebrovascular accidents, which cause strokes in children due to blockage of cerebral vessels, and cause hemorrhagic strokes in adults.
Another acute complication of the disease is bone infection.
Sickling of red blood cells frequently occurs in the spleen, which disappears as the spleen functions. This makes the affected patient susceptible to infection.
Chronic complications: Sickle cell disease has always been a childhood disease. With the increase in the life expectancy of patients, more of them have survived to adulthood, and by studying these people, it has become clear that the damage caused by vascular occlusion involves almost all end organs. Kidney and lung failure are the main causes of death in adult patients.
Other long-term complications include chronic skin ulcers, eye disorders, liver dysfunction, and gallstones.
treatment
Pain is controlled by administering fluids, oxygen, and painkillers. If there is any infection, antibiotics are necessary.
In patients with acute chest syndrome or intractable pain, doctors perform blood transfusion.
diagnosis
In addition to a complete medical history and physical examination, diagnostic methods for sickle cell disease include: blood tests and other evaluation methods.
Currently, newborn blood test screening is done in order to start the treatment as soon as possible.
Hemoglobin electrophoresis is a blood test that helps in diagnosing people with sickle cell trait or any disease associated with sickle cell.
Source – explanation