The annual World Sickle Cell Day is celebrated on June 19. Globally there is around 300,000 baby born with Sickle Cell Disease (SCD), and most of them succumb to death before their fifth birthday in the case of low-income countries. SCD affected around 100,000 people in America. However, the exact prevalence rate is yet to be determined.
What is Sickle Cell Disease?
Normal Condition: Red blood cells (RBC), which are considered as healthy, usually are round in shape. RBCs carry oxygen via blood to different parts of the body. Hemoglobin (Hb) is a protein in red blood cells responsible for carrying oxygen. Normal RBCs move quickly in the bloodstream due to their shape. Normal RBCs life is up to 120 days.
Abnormal Condition: Abnormal conditions are typically recognized by observing the shape of RBCs. Sickle Cell Disease or generally known as Sickle Cell Anaemia, is a condition in which RBC takes the shape of a sickle, typically “C” type. The shape changes due to flawed Hb. The cells become hard and sticky, resulting in difficulty of the moment in the bloodstream. In conclusion, SCD interferes with the oxygen supply to different organs and Tissues. On the contrary, RBCs in Sickle Cell Disease are destroyed by the spleen resulting in a short life span of 10 to 20 days.
The spleen acts as a storage and filter for blood. Spleen produces White Blood Cells (WBCs) that protect the body from infection. Due to the abnormal shape of RBCs, they get stuck in the spleen and destroyed by it, resulting in collateral damage.
Types of Sickle Cell Disease?
There are various varieties of SCD. The genes that a person received from their parents determine the precise type of SCD that person has. SCD patients inherit genes that serve as the blueprint or source code for faulty hemoglobin.
According to CDC, the most common type of SCD are:
Two genes that code for haemoglobin “S” are inherited by people with this kind of SCD, one from each parent. The defective haemoglobin known as haemoglobin S makes red blood cells stiff and sickle-shaped. The most severe form of the condition is typically known as sickle cell anaemia.
When a person has this type of SCD, they inherit the “S” gene for haemoglobin from one parent and the “C” gene for a different type of defective haemoglobin from the other. Typically, SCD takes a milder form like this.
There are various varieties of SCD. The genes that a person received from their parents determine the precise type of SCD that person has. SCD patients inherit genes that serve as the blueprint or source code for faulty haemoglobin.
HbS beta thalassemia
The “S” gene for haemoglobin and the beta thalassemia gene, a different type of haemoglobin abnormalities, are inherited from one parent and the other parent, respectively, by people with this form of SCD. Beta thalassemia comes in two forms: “zero” (HbS beta0) and “plus” (HbS beta+). SCD in HbS beta0-thalassemia patients is typically very severe. SCD in HbS beta+-thalassemia patients is typically a less severe type.
Cause of SCD?
A gene deficiency is the cause of the genetic disease sickle cell.
when two genes one from the mother and one from the father are inherited together will a person be born with sickle cell disease.
A healthy individual who carries the disease in the form of just one gene is referred to as a “carrier.” The likelihood that a kid born to a carrier and another carrier will have sickle cell anaemia is increased.
A child’s likelihood of developing sickle cell disease is 1 in 4, or 25% if both parents are sickle cell gene carriers.
Symptoms of Sickle Cell Disease?
The following list includes the sickle cell symptoms. However, every individual may uniquely experience symptoms. Potential symptoms and problems include:
Anemia: Because sickled cells are short-lived or destroyed, anemia results in a decrease in the body’s supply of red blood cells. Fatigue, shortness of breath, and vertigo are signs of severe anaemia.
Crisis of pain or suffering: This happens when sickled cells get caught in the blood vessel, blocking blood flow to the affected area. The chest, arms, and legs tend to pain the most frequently, however it can hurt anywhere. Infants and young children may have painful toe and finger swelling. Tissue death can also happen from a disturbance of blood flow.
Chronic chest syndrome: This occurs when the chest sickles. It might put your life in jeopardy. It typically occurs unexpectedly when the body is under stress from an infection, a fever, or dehydration. The sickled cells stick together and interfare the tiny blood capillaries of the lungs’ lungs from receiving oxygen. It can involve fever, discomfort, and a harsh cough, which resembles pneumonia.
Splenic sequestration: Crises are brought on by splenic clumps of sickle cells. This could have life-threatening consequences if not treated properly the first time and cause a sharp fall in hemoglobin. The spleen may also enlarge and pain due to the increased blood volume. The spleen suffers lasting damage and scarring after numerous occurrences.
Stroke: This is another rapid and serious complication that affects people with sickle cell disease. The abnormal cells can obstruct the main blood vessels that supply the brain with oxygen. If the brain’s supply of blood and oxygen is interrupted, a severe brain injury could result. Your chance of having a second or third stroke rises if you have a sickle cell stroke.
Jaundice: Jaundice is a prominent sign and symptom of sickle disease. Sickle cells have a shorter lifespan than regular red blood cells, which causes them to deteriorate more quickly than the liver can eliminate them from the body. The bilirubin that gives things their yellow colour and accumulates in the body to induce jaundice is produced by these broken-down cells.
Priapism: Sickle cells cause a painful restriction of the blood arteries of the penis. It can lead to impotence if not promptly treated.
Prevention and treatment of Sickle Cell Disease?
When deciding the best treatment for you, your doctor will consider your age, general health, and other variables.
Treatment for sickle cell disease must focus on early diagnosis and preventing complications.The basic objectives of treatment are to prevent organ damage, manage symptoms, and control infections.Treatment options include:
Pain Management: For crises related to sickle cell anemia.
Fluid intake Management: This is done to stop and handle pain crises. Fluids administered intravenously may be necessary for specific circumstances.
Blood transfusions: These could help with stroke treatment and prevention. By combining sickled hemoglobin with regular hemoglobin, they are also used to treat crises such as splenic sequestration, acute chest syndrome, and chronic discomfort. Both antibiotics and immunizations work to prevent infections.
Folic acid: Folic acid helps prevent severe anemia.
Hydroxyurea: This medication reduces the incidence of pain crises and acute chest condition. Additionally, it might help cut down on the need for blood transfusions. The medication’s long-term effects are unknown.
Routine eye exams: These are performed as retinopathy screenings.
Transplant of bone marrow: Bone marrow transplants can cure some sickle cell disease patients. The decision to have a bone marrow transplant is based on the severity of the disease and the accessibility of donor marrow. Only in specialized medical facilities can these decisions be made, and they must be discussed with your doctor first.