Sickle Cell Anemia
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- Apollo Hospital Mumbai
- August 6, 2022
- Clinical Excellence Oncology
Sickle Cell Anemia
What is sickle cell anemia?
Sickle cell anemia is a condition that affects the structure of red blood cells. Normal red blood cells are spherical, however in sickle cell anemia, haemoglobin becomes faulty, causing red blood cells to shift their form. Some red blood cells have sickle or crescent moon shapes. These sickle cells become hard and sticky, slowing or blocking blood flow.
What causes sickle cell anemia?
Sickle cell anemia is characterized by a mutation in the gene that directs the body to produce haemoglobin, an iron-rich molecule found in red blood cells. Red blood cells use haemoglobin to transport oxygen from the lungs to the rest of the body. The sickle cell haemoglobin causes red blood cells to become hard, sticky, and malformed.
In order for a child to be affected, both parents must have one copy of the mutant gene, also known as the sickle cell trait, and when both copies of faulty gene is inherited in child that results in sickle cell disease.
If just one parent passes on the sickle cell trait to their child, they may do not usually exhibit symptoms. However, they are disease carriers, which means they may pass the gene on to their offspring.
What are the signs and symptoms of sickle cell anemia?
Anemia: Sickle cells break down easily and die. Red blood cells usually last about 120 days before they need to be replaced. However, sickle cells usually die within 10 to 20 days, leading to a deficiency of red blood cells (anemia). Without adequate red blood cells, the body is unable to get enough oxygen, leading to fatigue.
Recurrent pain episodes: This is a major symptom of sickle cell anemia. Pain arises when red blood cells block the flow of blood to your chest, abdomen, and joints through the small blood vessels.
Hand and foot swelling: Swollen hands and feet are caused by sickle-shaped red blood cells that impede blood circulation.
Recurrent infections: Sickle cells can harm the spleen, making it more vulnerable to infections. Vaccinations and antibiotics are regularly given to infants and children with sickle cell anemia to avoid potentially fatal illnesses such as pneumonia.
Slow adolescence or development: Red blood cells transport oxygen and nutrients throughout the body. A lack of healthy red blood cells can impair child and toddler growth and postpone puberty in teens.
Issues with vision: Sickle cells can clog tiny blood arteries that feed the eyes. This can cause retinal damage and eyesight issues.
Are there any complications associated with sickle cell anemia?
Stroke: Anemia cells can obstruct circulation of blood to a particular location of the brain. Seizures, paralysis or coldness of the arms and legs, unexpected speech impairment, and unconsciousness are all symptoms of a stroke. If your child exhibits any of these indications, seek medical attention immediately. A stroke has the potential to be deadly.
Acute chest syndrome: This potentially fatal consequence can be caused by a lung disease or sickle – cell disease that clog blood channels in the lungs, causing in chest discomfort, fever, and trouble breathing. It could necessitate urgent medical care.
Pulmonary hypertension: People with this disease might have excessive blood flow in their lungs. This condition is usually seen in adults. This illness, which can be deadly and is indicated by breathing difficulties and exhaustion.
Organ damage: Sickle cells that obstruct blood circulation to organs deplete the afflicted organs of blood and oxygen. Blood with sickle cell anemia is also persistently deficient in oxygen. This shortage of oxygen-rich blood can harm nerves and organs, including the kidneys, liver, and spleen, and can be deadly.
Splenic sequestration: Numerous sickle cells can become stuck in the organ, allowing it to expand and perhaps causing tummy discomfort on the left side of the body. This is a fatal condition.
Blindness: Sickle cells can obstruct the small blood arteries that feed the eyes. This can lead to complications with eyesight over time.
Leg ulcers. Sickle cell anemia can increase the risk of ulcers if the open wounds on the legs are left untreated.
Deep vein thrombosis: Disorder of red blood cells can result in blood clots, increasing the chance of a clot becoming lodged in a deep vein thrombosis or pulmonary embolism. Both can result in severe disease or even death.
Pregnancy complications: During pregnancy, sickle cell anemia might raise the risk of high blood pressure and clotting. It can also raise the chances of miscarriage, early birth, and having infants with low birth weight.
How is sickle cell anemia diagnosed?
Anemia is frequently detected at birth or in under few months of life. A simple blood test performed at birth detects sickle cell disease by looking for aberrant haemoglobin gene. However, a positive test for hemoglobin disorders does not automatically indicate that a child has genetic disease, thus more testing is required. More blood tests and laboratory tests such as transcranial Doppler ultrasonography (TCD), or genetic screening may be required.
A blood sample is obtained from an arm veins in adults. In newborns and infants, blood is frequently drawn from a finger or heel. The specimen is subsequently sent to a lab to be checked for sickle cell anemia.
If you or your child has sickle cell, your doctor may recommend further testing to rule out any potential consequences of the condition.
If both you and your child have the sickle cell trait, you will almost certainly be directed to a genetic consultant.
How is sickle cell anemia treated?
There are some medicines which can decrease the complications associated with sickle cell disease. Allogenic hematopoietic stem cell transplant is the only cure for Sickle cell disease wherever indicated.
If your child has sickle cell disease, your doctor will tell you what you’ll do to help him or her live normally. To avoid life-threatening infections, your child may need to take oral medication.
How can we prevent from sickle cell anemia?
If you have the sickle cell anemia, preconception counselling or consultation with a medical professional before trying to conceive can help you know your risk of having a baby with sickle cell. Your doctor can also describe treatment options and preventive methods.
Inputs by Dr. Vipin Khandelwal, Consultant, Haemto-oncology and Bone Marrow Transplant Physician, Apollo Cancer Centres Navi Mumbai
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