Sickle cell disease is a lifelong condition caused by a faulty gene that affects how red blood cells develop. As the word prepares to celebrate The Sickle Cell Disease Day on 19th June, here is what you should know about the disease.
People with sickle cell are often at an increased risk of contracting serious infections or they could become anaemic, which is when red blood cells cannot carry enough oxygen around the body.
Some patients have regular blood transfusions – usually every three to four weeks – as a form of treatment for the condition.
What is Sickle Cell Disease? (SCD)
The term sickle cell disease (SCD) describes a group of inherited red blood cell disorders. People with SCD have abnormal hemoglobin, called hemoglobin S or sickle hemoglobin, in their red blood cells.
Hemoglobin is a protein in red blood cells that carries oxygen throughout the body.
“Inherited” means that the disease is passed by genes from parents to their children. SCD is not contagious. A person cannot catch it, like a cold or infection, from someone else.
People who have SCD inherit two abnormal hemoglobin genes, one from each parent. In all forms of SCD, at least one of the two abnormal genes causes a person’s body to make hemoglobin S. When a person has two hemoglobin S genes, Hemoglobin SS, the disease is called sickle cell anemia. This is the most common and often most severe kind of SCD.
Sickle cell anemia
According to kids health.org Sickle cell is a life long genetic condition that causes the human body to produce abnormally shaped red blood cells. Bone marrow transplant is he only possible cure.
The hemoglobin in red blood cells is clumped up hence causing the cells to be c-shaped making them prone to breakdowns compared to normal cells, this causes Anemia.
Anemia is a condition where a person has less than normal red blood cells which mean less oxygen circulation.
Where does Sickle Cell occur?
Sickle cell is most common in Africa, South America, Central America, The Caribbean Islands, parts of The Mediterranean, India and Saudi Arabia. It is now s a world -wide problem because of intermarriages with widespread migration.
In countries such as Cameroon, Republic of Congo, Gabon, Ghana and Nigeria, the prevalence is between 20 – 30 percent
Wikipedia states that by 2013 approximately 3.2 million people had SCD while additional 43 million had sickle cell trait.
The National Heart Lung and Blood Institute (NHLBI), Evidence expert panel report 2014 adds that Sickle cell disease is much more common in people of African and Mediterranean descent. In Kenya it’s most common in Western and Nyanza.
Overview of the SCD
Cells in tissues need a steady supply of oxygen to work well. Normally, hemoglobin in red blood cells takes up oxygen in the lungs and carries it to all the tissues of the body.
Red blood cells that contain normal hemoglobin are disc shaped (like a doughnut without a hole). This shape allows the cells to be flexible so that they can move through large and small blood vessels to deliver oxygen.
Sickle hemoglobin is not like normal hemoglobin. It can form stiff rods within the red cell, changing it into a crescent, or sickle shape.
Sickle-shaped cells are not flexible and can stick to vessel walls, causing a blockage that slows or stops the flow of blood. When this happens, oxygen can’t reach nearby tissues.
Causes
Sickle cell disease is caused by a genetic abnormality in the gene for hemoglobin, which results in the production of sickle hemoglobin.
When oxygen is released from sickle hemoglobin, it sticks together and forms long rods, which damage and change the shape of the red blood cell. The sickle red blood cells causes the symptoms of sickle cell disease.
For a person to have sickle cell Anemia, they must have two sickle cell genes each inherited from both parents.
Children are born with sickle cell disease; it is not contagious. It occurs when a child inherits two sickle hemoglobin genes, one from each parent.
In cases where one parent has the gene but the other doesn’t the child will have a sickle cell trait hence be a carrier who can pass on the sickle cell gene to their child if the other parent also has sickle cell trait or another abnormal gene.
People who inherit only one sickle hemoglobin gene are carriers (sickle cell trait) and do not have anemia or painful sickle cell crises.
Pain management of the Sickle cell disease.
Patients with sickle cell disease may develop severe pain in the chest, back, arms, legs, and abdomen.
Pain can occur anywhere in the body. Sickle red blood cells in the lungs can cause severe illness with chest pain, fever, and difficulty breathing.
Sickle cell disease can also cause permanent damage to the brain, heart,kidneys, liver, spleen, and bones. The severity and symptoms vary greatly from person to person, even within the same family.
Diagnosis of SCD
It is important to diagnose this disease early in order to be able to avoid some of the complications faced. Both the disease and trait can be diagnosed with a blood test.
The Sickle Cell Disease is diagnosed by a blood test called hemoglobin electrophoresis, which measures the amount of the abnormal sickle hemoglobin.
The amount of sickle hemoglobin determines whether the person is a carrier (sickle cell trait) or has sickle cell disease.
It is also possible for doctors to diagnose the disease before birth (prenatal testing) through a sample of the mother’s amniotic fluid in the placenta.
World Health Organization (WHO) reports indicate that the disease can be managed using simple methods like; taking a high percentage of fluids and a healthy diet, taking folic acid supplements, using painkillers in case of pain and vaccinating oneself against infections
Symptoms
Episodes of pain referred to as crisis: Mayo clinic research indicates that these episodes are caused when the sickle shaped red blood cells block blood from flowing to chest, abdomen and joints. The pain lasts for hours for some patients while for others it goes on for weeks.
Other common symptoms include; swollen hands and feet caused by blockage of blood flow to these parts, Slow growth in infants and children, delayed puberty and anemia which also causes fatigue and infections.
The infections come about as a result of damaged spleen which is an organ that fights infections.
Treatment
According to the WHO, Hydroxyurea is the only FDA-approved medication that prevents painful episodes in sickle cell disease.
Studies of patients with sickle cell disease show that the regular use of hydroxyurea decreases the frequency and severity of sickle cell crises and reduces the number of blood transfusions and hospitalizations.
Stem cell transplant is the only curative treatment for sickle cell disease.
According to Mayo clinic, more than 200 patients with sickle cell disease have undergone stem cell transplants from a matched sibling donor.
Stem cell transplant has a 5%-10% risk of death, but patients with successful transplants were completely cured of sickle cell disease, with no further episodes of pain.
Prevention.
It is important to test for sickle cell disease and trait if you have a history of sickle cell anemia in your bloodline.
Those who carry the sickle cell trait should see a genetic counselor before starting a family so that they can be aware of the risks, preventive measures and options they can take to have healthy kids.
