One of the genetic diseases known as sickle cell disease is sickle cell anaemia. Red blood cells, which deliver oxygen to every region of the body, are affected in terms of structure.
Typically rounded and flexible, red blood cells can flow through blood veins with ease. Red blood cells with sickle or crescent shapes are characteristic of sickle cell anaemia. Additionally, these sickle cells develop a hard and sticky coating that can hinder or delay blood flow.
Most persons with sickle cell anaemia are incurable. Treatments can reduce suffering and aid in avoiding disease-related consequences.
Symptoms
Sickle cell anaemia symptoms typically start to show about 6 months of age. They can evolve over time and differ from person to person. Among the warning signs and symptoms are:
Anaemia. Sickle cells easily disintegrate and expire. Red blood cells typically last 120 days or so before needing to be replaced. However, sickle cells usually expire after 10 to 20 days, causing anaemia (a lack of red blood cells). Fatigue results from the body’s inability to obtain enough oxygen if there are not enough red blood cells.
Occurrences of pain. One of the main signs of sickle cell anaemia are recurrent episodes of excruciating pain, sometimes known as pain crises. Red blood cells with sickle shapes obstruct blood flow to your joints, belly, and chest, causing pain.
The duration and intensity of the pain might range from a few hours to many days. Only a few pain crises occur for some people each year. Some people have twelve or more a year. A hospital stay is necessary for a serious pain crisis.
With sickle cell anaemia, some teenagers and adults also have chronic pain, which can be brought on by ulcers, bone and joint degeneration, and other conditions.
Swelling of the feet and hands. Sickle-shaped red blood cells obstructing blood flow to the hands and feet are to blame for the edoema.
Many infections. The spleen may become damaged by sickle cells, making it more susceptible to infections. Antibiotics and vaccines are frequently given to infants and kids with sickle cell anaemia to help them avoid potentially fatal illnesses like pneumonia.
Delayed puberty or development. The oxygen and nutrients the body needs for growth are delivered by red blood cells. Lack of healthy red blood cells can prevent teens from going through puberty and slow down newborns’ and children’s growth.
Vision issues. Sickle cells can clog the tiny blood arteries that supply the eyes. This can harm the retina, the area of the eye responsible for processing visual pictures, and cause vision issues.
Causes
The gene that instructs the body to produce haemoglobin, an iron-rich substance found in red blood cells, is altered in sickle cell anaemia. Red blood cells deliver oxygen from the lungs throughout the body thanks to haemoglobin. Red blood cells that have sickle cell anaemia are hard, sticky, and malformed due to the haemoglobin that is associated with the condition.
Both the mother and the father must have one copy of the sickle cell gene, commonly known as the sickle cell trait, and must pass both of the child’s copies of the changed version.
A child will inherit the sickle cell trait if only one parent has the sickle cell gene. People with the sickle cell trait can produce both normal and sickle cell haemoglobin because they have two normal haemoglobin genes and one gene with an altered version.
They may have some sickle cells in their blood, but they often don’t exhibit any symptoms. However, because they have the condition, they can carry the gene to their offspring.
Complications
Several complications, such as the following, can result from sickle cell anaemia:
Stroke. Blood flow to a specific part of the brain can be blocked by sickle cells. Seizures, numbness or weakness in the arms and legs, sudden speech problems, and loss of consciousness are all indications of a stroke. Take your child to the doctor right away if they exhibit any of these symptoms. Strokes are often fatal.
Chronic chest syndrome. This potentially fatal consequence, which manifests as chest pain, fever, and breathing difficulties, can be brought on by a lung infection or sickle cells clogging blood channels in the lungs. It might call for immediate medical attention.
Hypertension in the lungs. High pulmonary blood pressure can develop in people with sickle cell anaemia. Adults are generally affected by this condition. This illness, which can be fatal, frequently causes shortness of breath and exhaustion.
Organ injury. Organs impacted by sickle cells that prevent blood flow are deprived of both blood and oxygen. Blood oxygen levels are also abnormally low in sickle cell anaemia. This deficiency in oxygen-rich blood can be lethal and harm nerves and organs like the kidneys, liver, and spleen.
Segmentation of the spleen. The spleen can grow due to the presence of a lot of sickle cells, which can also result in stomach pain on the left side of the body. This may endanger your life. Sickle cell anaemia patients’ parents should practise regularly feeling their child’s spleen for enlargement.
Blindness. Sickle cells have the potential to obstruct the eyes’ small blood capillaries. This can eventually result in blindness.
Leg sores. Leg ulcers brought on by sickle cell anaemia can be very painful.
Gallstones. Bilirubin is a byproduct of red blood cell decomposition. Gallstones can develop if bilirubin levels are too high in the body.
Priapism. Men with sickle cell anaemia may experience painful, protracted erections in this state. Sickle cells can obstruct the penile blood arteries, which over time can cause impotence.
Thrombosis in a deep vein. Red cell sickling can result in blood clots, which raises the possibility of a clot getting lodged in a deep vein (deep vein thrombosis) or the lung (pulmonary embolism). Either could result in a fatal illness.
Problems with pregnancy. Blood clots and high blood pressure are more likely to occur during pregnancy if you have sickle cell anaemia. A higher chance of miscarriage, early birth, and low birth weight kids can also result from it.
Prevention
Consulting a genetic counsellor before starting a family can help you understand your risk of passing the sickle cell trait to a child. A genetic counsellor can also go over potential cures, safeguards, and options for conception.
