Sickle cell disease or sickle cell anemia is the most common genetic blood disorder. It is a genetic disease of red blood cells. It occurs when a child receives a sickle cell trait from each parent and affects millions of people worldwide, particularly blacks.
Sickle cell disease causes red blood cells to “sickle” or become banana-shaped when they are stressed and this can make it difficult for them to flow through blood vessels.
Normally, red blood cells are shaped like discs, which gives them the flexibility to travel through even the smallest blood vessels. However, with this disease, the red blood cells have an abnormal crescent shape resembling a sickle.
This makes them sticky and rigid and prone to getting trapped in small vessels, which blocks blood from reaching different parts of the body. This can cause pain and tissue damage.
Symptoms
Symptoms of sickle cell anemia usually show up at a young age from 4 – 6 months old. These include excessive fatigue or irritability, jaundice, skin, Swelling, and pain in hands and feet, chest, back, arms, or legs, etc.
Delayed growth often occurs in people with sickle cell disease and sexual maturation may also be delayed because the sickle cell red blood cells can’t supply enough oxygen and nutrients.
Types of sickle cell disease
Hemoglobin is the protein in red blood cells that carries oxygen. It normally has two alpha chains and two beta chains. The four main types of sickle cell disease are caused by different mutations in these genes.
Sickle cell trait
People who only inherit a mutated gene (hemoglobin S) from one parent are said to have sickle cell trait. They may have no symptoms or reduced symptoms. Two copies of the sickle cell are required for you to have the disease. If you have only one copy of the gene, you are said to have the sickle cell trait.
Hemoglobin SS
Hemoglobin SS disease is the most common type of sickle cell disease. It occurs when you inherit copies of the hemoglobin S gene from both parents and form hemoglobin known as Hb SS. As the most severe form of SCD, individuals with this form experience the worst symptoms at a higher rate.
Hemoglobin SC
Hemoglobin SC disease is the second most common type of sickle cell disease. It occurs when you inherit the Hb C gene from one parent and the Hb S gene from the other. Symptoms are similar to individuals with Hb SS, however, the anemia is less severe.
Risk factors
Children are only at risk for sickle cell disease if both parents carry the sickle cell trait. A blood test called a hemoglobin electrophoresis can also determine which type you might carry.
Common complications
Sickle cell anemia can cause severe complications, which appear when the sickle cells block vessels in different areas of the body. The painful or damaging blockages are called sickle cell crises. They can be caused by a variety of circumstances, including illness, changes in temperature, stress, poor hydration, and altitude.
Some neurological complications such as seizures, strokes, or even coma can result from blockages in the vessels supplying the affected organ. Since the disease interferes with blood oxygen supply, it can also cause heart problems which can lead to heart attacks, heart failure, and abnormal heart rhythms.
Among other complications are some forms of organ damage such as to the lungs that can result in more frequent sickle cell crises.
Severe anemia
Anemia is a shortage of red blood cells. The sickle cells are easily broken (called chronic hemolysis). The red blood cells generally live for about 120 days but sickle cells live for no longer than 10 to 20 days.
Diagnosis
There are many different types of sickle cell disease, but the Hemoglobin SS type is the most common and is also called sickle cell anemia. It occurs when a person inherits one Hemoglobin S sickle trait from each parent making two overall.
The best way is by screening all newborns For sickle cell disease. Pre-Birth testing also identifies the sickle cell gene in the amniotic fluid. There is also the new noninvasive screening for Sickle cell in pregnancy where the mother’s blood is required to screen for the presence of Sickle cell in the baby being carried by the AS mother.
This blood screening for Sickle Cell is now available in Nigeria.
Patient history
The condition often first appears as acute pain in the hands and feet. Patients may also have severe pain in the bones, anemia, painful enlargement of the spleen, growth problems, respiratory infections, ulcers of the legs and heart problems among others.
Treatment
Some people with sickle cell disease need blood transfusions and red blood cells can be taken from a blood donor without sickle cell disease or sickle cell trait to treat a patient with sickle cell disease. The only proven cure for sickle cell disease is a bone marrow transplant.
A number of different treatments are available. For instance, rehydration with intravenous fluids helps red blood cells return to a normal state. Also, treatment of underlying or associated infections is an important part of managing the crisis that could result from the stress of an infection. Blood transfusions improve transport of oxygen and nutrients as needed. Packed red cells are removed from donated blood and given to patients.
Supplemental oxygen is given through a mask, it is beneficial because it makes breathing easier and improves oxygen levels in the blood.
Pain medication such as over-the-counter drugs or strong prescription help to relieve the pain during a sickle crisis while other drugs help to increase production of fetal hemoglobin. Immunizations help prevent infections because the patients tend to have lower immunity.
However bone marrow transplant is used to treat sickle cell anemia and it is particularly effective in children younger than 16 years of age with severe complications and a matching donor.
Home care
To help sickle cell symptoms, things like using heating pads for pain relief, folic acid supplements, and fruits, vegetables, and whole-wheat grains can help the body make more red blood cells.
Tips such as drinking more water to reduce the chances of sickle cell crises, regular exercise and reduction of stress to reduce crises are all desirable.
The long-term outlook for sickle cell disease varies. Some patients have frequent and painful sickle cell crises. Others only rarely have attacks.
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