Sickle-cell Anaemia: Symptoms, Causes, Diagnosis & Treatment

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Sickle-cell Anaemia: Symptoms, Causes, Diagnosis & Treatment

Sickle-cell anaemia is a group of blood disorders typically inherited from a person’s parents. Sickle-cell anaemia results in an abnormality in the oxygen-carrying protein haemoglobin found in red blood cells which leads to a rigid, sickle-like shape under certain circumstances. The average life expectancy of people with sickle-cell anaemia in the developed world is 40 to 60 years

As of 2015, about 4.4 million people have sickle cell anaemia, while an additional 43 million have sickle cell trait. It occurs relatively frequently in parts of India.

How Does Sickle-cell Anaemia Affect Your Body?

A person with sickle cell anaemia will have a low amount of red blood cells (RBCs) because sickle cells are abnormally frail, which can cause anaemia. Sickle cell anaemia causes an oxygen deficiency in different parts of the body, which can be dangerous. If growing cells do not receive enough oxygen, their growth can be stunted. The abdominal and chest pain experienced by someone with sickle cell anaemia is caused by arteries that have become obstructed by a buildup of sickle cells. If sickle cell causes spleen damage, the body may become more prone to infection. Sickle cell anaemia can also damage blood vessels in the eyes, decreasing vision.

What Are The Causes of Sickle-cell Anaemia?

Sickle-cell anaemia is an autosomal recessive trait that can be transmitted from parents who are the carriers for the gene, to the offspring. There is a 50 percent probability of transmitting the mutant gene to the progeny. The defect is caused by the substitution of glutamic acid by valine in a haemoglobin molecule. The mutant haemoglobin molecule undergoes polymerization under low oxygen force causing a change in the shape of RBC from biconcave to elongated sickle like structure.

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What Are The Risk Factors of Sickle-cell Anaemia?

For a child to be born with sickle cell anaemia, both parents must carry a sickle cell gene i.e., both parents have to be carriers.

What Are The Symptoms of Sickle-cell Anaemia?

  • Anaemia – Sickle cells break apart easily and die, leaving without enough red blood cells. Sickle cells die in 10 to 20 days, leaving a shortage of red blood cells (anaemia) because of which the body can’t get the oxygen it needs to feel energized, causing fatigue.
  • Episodes of pain – Periodic episodes of pain is a major symptom of sickle cell anaemia. Pain develops when sickle-shaped RBCs block blood flow through tiny blood vessels to the chest, abdomen, and joints.
  • Painful swelling of hands and feet – The swelling is caused by sickle-shaped RBCs blocking blood flow to the hands and feet.
  • Frequent infections – Sickle cells can damage an organ that fights infection leaving one more vulnerable to infections.
  • Delayed growth – RBCs provide the body with the oxygen and nutrients one needs for growth. Lack of healthy RBCs can slow growth in infants and children and delay puberty in teenagers.
  • Vision problems – Tiny blood vessels that supply eyes may become plugged with sickle cells causing damage to the retina, leading to vision problems.
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How is Sickle-cell Anaemia Diagnosed?

  • Blood Test – This test can check for hemoglobin S, the defective form of haemoglobin that underlies sickle cell anaemia and to check for low red blood cell count (anaemia).
  • If the screening test comes positive, further tests will be done to determine whether one or two sickle cell genes are present.
  • Sickle cell anaemia can be diagnosed in an unborn baby by sampling amniotic fluid to look for the sickle cell gene.
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How To Prevent And Control Sickle-cell Anaemia?

If you are a carrier of this disease, seeing a genetic counselor before trying to conceive can help you understand your risk of having a child with sickle cell anaemia and may also explain possible treatments, preventive measures, and reproductive options.

Treatment of Sickle-cell Anaemia – Allopathic Treatment

  • Bone marrow transplant – Usually reserved for people younger than age 16 because the risks increase for people older than 16. This transplant offers a potential cure for sickle-cell anaemia.
  • Vaccinations to prevent infections – Childhood vaccinations are important for preventing disease, even more important for children with sickle cell anaemia because their infections can be severe.
  • Blood transfusions – In a transfusion, red blood cells are removed from a supply of donated blood, then given intravenously to a person with sickle cell anaemia. Blood transfusions increase the number of normal RBCs in circulation, helping to relieve anaemia.

Medications used include:

  • Antibiotics – Children with sickle cell anaemia may begin antibiotic penicillin when they’re about 2 months old and continue taking it until they’re at least 5 years old. This helps prevent infections, such as pneumonia, which can be life-threatening to an infant or child with sickle cell anaemia. As an adult, one might need to take penicillin throughout your life if they had their spleen removed or had pneumonia.
  • Pain-relieving medications – To relieve pain during a sickle cell crisis, hydroxyurea (Droxia, Hydrea) is prescribed which reduces the frequency of painful crises and might reduce the need for blood transfusions and hospitalizations.
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Treatment of Sickle-cell Anaemia – Homeopathic Treatment

There’s no known homeopathic remedy for sickle-cell anaemia, at present.

Sickle-cell Anaemia – Lifestyle Tips

  • Take folic acid supplements daily and follow a diet that focuses on a variety of colorful fruits and vegetables, as well as whole grains.
  • Drink plenty of water because dehydration can increase the risk of a sickle cell crisis.
  • Avoid extreme temperature because exposure to heat or cold can increase the risk of a sickle cell crisis.
  • Exercise regularly but do not over-do it.
  • Use over-the-counter pain medications, such as ibuprofen or naproxen sodium sparingly, if at all, because of the possible effect on your kidneys.

What Are The Recommended Exercises For a Person With Sickle-cell Anaemia?

Sickle-cell anaemia patients are advised to exercise according to their symptoms. However, exercise very slowly and progressively and maintain hydration during and after exercise. Also, avoid cold exposer and sudden change in temperature.

Sickle-cell Anaemia & Pregnancy – Things to Know

  • Women with sickle cell trait do not have problems from the disorder but may have a lot of urinary tract infections during pregnancy.
  • Pregnant women with sickle cell trait can also have anaemia caused by not having enough iron in their blood. Women with this disorder are given iron supplements.
  • In pregnancy, sickle cell anaemia may result in lower amounts of oxygen going to the developing baby which can slow down the baby’s growth.
  • Sickle cell anaemia may cause miscarriage, poor fetal growth, pre-term labor and still- birth. The child may also be affected if both the parents are carriers of sickle-cell anaemia.

Common Complications Related to Sickle-cell Anaemia

  • Stroke – A stroke can occur if sickle cells block blood flow to an area of the brain.
  • Acute chest syndrome – Acute chest syndrome can be caused by a lung infection or by sickle cells blocking blood vessels in the lungs.
  • Pulmonary hypertension – People with sickle cell anaemia can develop pulmonary hypertension.
  • Organ damage – Sickle cells can block the blood flow through blood vessels immediately depriving the affected organ of blood and oxygen. This can damage nerves and organs in the body, including your kidneys, liver and spleen.
  • Blindness – Sickle shaped blood cells can block tiny blood vessels that supply the eyes.
  • Leg ulcers – Sickle cell anaemia can cause ulcers on the legs.
  • Gallstones – The breakdown of RBCs produces a substance called bilirubin which can lead to gallstones.
  • Priapism – Men with sickle cell anaemia can have painful, long-lasting erections, a condition called priapism. Sickle cells can block the blood vessels in the penis which can damage the penis and lead to impotence.

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