Sickle Cell Anemia: A Genetic Challenge for Life
Sickle cell disease is a blood illness that affects red blood cells and is hereditary. People with sickle cell disease contain haemoglobin S, a defective kind of haemoglobin. These red blood cells can sometimes take on a sickle (crescent) form, making it harder to flow through small blood channels. Usually, sickle-shaped cells obstruct small blood veins, and blood flow to that portion of the body decreases. Tissue that does not receive adequate blood flow suffers damage over time. This process is what leads to sickle cell disease problems. At this time, there is no universal cure for sickle cell disease.
Sickle cell disease is a category of haemoglobin-related inherited diseases. Although these conditions can be fatal, there are techniques to treat the symptoms. Haemoglobin, a chemical that transports oxygen throughout the body, is found in red blood cells. Sickle cell anaemia, also known as sickle cell disease (SCD), is a kind of anaemia caused by a genetic abnormality in the red blood cells (RBCs).
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| Happy patient after sickle disease |
Usually, RBCs are disc-shaped, allowing them to pass through even the tiniest blood vessels. The RBCs with this condition have an irregular crescent form, similar to a sickle. This condition makes them sticky and inflexible, and they're more likely to get stuck in tiny veins, blocking blood flow to different regions of the body. This action may result in discomfort and tissue damage.
What is the best way to tell if you have sickle cell anaemia?
Sickle cell anaemia symptoms frequently appear at an early age. They can emerge in newborns as young as four months old, although they often show around six months. Even though there are several forms of SCD, they all have similar symptoms that vary in severity.
These are some of them:
- Excessive weariness or irritation are symptoms of anaemia.
- Fussiness in infants
- Kidney issues might cause bedwetting.
- Jaundice is defined as a yellowing of the eyes and skin.
- Infections that cause swelling and discomfort in the hands and feet are common.
- Pain in the chest, back, arms, or legs is a common complaint.
Sickle cell disease is a genetic condition. It can only be inherited if one or more defective genes originate from one's biological parents. An individual with sickle cell trait but not sickle cell illness inherits a defective gene from one parent. The disease comes from a faulty gene passed down from parents.
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What are the types of Sickle cell illness?
Sickle cell illness can manifest itself in a variety of ways. Among the most important are:
- HbSS:
Each parent passes on one sickle cell gene to their children. This kind of sickle cell anaemia is the most severe. It's referred to as HbSS by experts.
- HbSC:
A sickle cell gene is inherited from one parent. The other parent has a different sort of defective haemoglobin. HbSC is often milder than HbSS.
- HbS beta-thalassemia:
HbS beta-thalassemia is a kind of anaemia in which a person receives a sickle cell gene from one parent and a gene for beta-thalassemia from the other.
- Sickle cell trait:
If a person has one sickle cell gene, a baby will not develop sickle cell disease, but they will be able to pass the gene on to their offspring.
What complications can arise from sickle cell anaemia?
Sickle cell disease can cause severe complications when the sickle cells block blood vessels in different organs. Painful or damaging blockages are called sickle cell crises.
They can happen to a variety of circumstances, including:
- sickness
- temperature fluctuations
- stress
- inadequate hydration
- Altitude
Sickle cell anaemia can cause many problems, which are listed below.
Anaemia (severe)
- RBC deficiency causes anaemia. Sickle cells are easy to break. RBCs are broken down in a process called chronic hemolysis. Sickle cells have a 10-day to 20-day life cycle.
Hand-foot syndrome is a condition that affects both hands and feet.
- Sickle-shaped RBCs restrict blood flow to the hands and feet, causing hand-foot syndrome. The hands and feet enlarge as a result of this. Leg ulcers are also a possibility. In newborns, swollen hands and feet are frequently the earliest indicators of sickle cell anaemia.
- Splenic sequestration
Splenic sequestration is a blockage of the splenic vessels by sickle cells. It causes the spleen to expand suddenly and painfully. Due to difficulties with sickle cell disease, the spleen may need removal in a procedure called a splenectomy. Some sickle cell patient spleens deteriorate to the point where they shrink and stop functioning altogether. This procedure is known as an autosplenectomy.
Delayed growth
People with SCD often experience delayed growth. As children grow up, their height increases. Sexual maturation gets delayed. This process happens because sickle cell RBCs can’t supply enough oxygen and nutrients. Some other issues are mentioned below.
- Disorders of the nervous system
- Sickle cell illness can cause seizures, strokes, and even coma.
- Problems with the eyes
- Blockages in the vessels supplying the eyes induce blindness. These blockages can damage the retina.
- Ulcers on the skin
- Chest syndrome and heart disease
Lung ailment
Increased blood pressure (pulmonary hypertension) and scarring of the lungs can occur and result in damage to the lungs caused by reduced blood flow over time (pulmonary fibrosis). Patients with sickle cell disease may experience these issues sooner.
- Priapism
Priapism is a painful, persistent erection that some men with sickle cell illness experience. When the blood vessels in the penis get obstructed, this might happen. If left untreated, it might develop into impotence.
- Gallstones
Gallstones are a complication unrelated to vessels.
- Sickle-chest syndrome
Sickle chest syndrome is a severe type of sickle cell crisis. This condition causes severe chest pain and is associated with symptoms such as coughing, fever, sputum production, shortness of breath, and low blood oxygen levels.
How is sickle cell anaemia treated?
Several different treatments are available for SCD:
- Intravenous fluid rehydration aids in the restoration of red blood cells to their natural state. If you're dehydrated, your red blood cells are more prone to distorting and taking on a sickle shape.
- Treatment of underlying or linked infections is critical in controlling the crisis, as infection-related stress can trigger a sickle cell crisis. An infection can also occur as a result of this disorder.
- Blood transfusions help to deliver oxygen and nutrients when they are required. Patients get packed with red blood cells extracted from donor blood.
- Supplemental oxygen flows through a mask. It makes breathing easier and improves oxygen levels in the blood.
- During sickle cell incidents, pain medication might help you feel better. It may be necessary to use over-the-counter pain relievers or prescription pain relievers such as morphine.
- Some medicines help to increase the production of fetal haemoglobin.
- Immunization can aid in preventing infections. Immunity is typically low among patients.