Sickle Cell Anaemia- Know The Causes, Symptoms And Treatment Of This Hereditary Blood Disorder

Sickle cell anaemia is a genetic blood disorder in which the body produces abnormally shaped red blood cells that are crescent-shaped rather than round.

Sickle Cell Anaemia

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New Delhi: Finance Minister Nirmala Sitharaman announced on Wednesday, during her budget speech, that the government aims to eradicate sickle-cell anaemia by 2047. She also said that a new scheme will be launched to screen 70 million people up to the age of 40 in impacted Indian tribal areas, for the disease. Sickle cell anaemia is a genetic condition that is widespread among many tribal groups in India where about 1 in 86 births among STs suffer from it. 

What is sickle-cell anaemia:

Sickle cell anaemia is a genetic blood disorder in which the body produces abnormally shaped red blood cells that are crescent-shaped rather than round. These sickle-shaped cells get stuck in small blood vessels, causing blockages that restrict blood flow and oxygen to the body's tissues, resulting in pain, organ damage, and various other complications.

There is no cure for sickle cell anaemia, but treatments are available to manage the symptoms and prevent complications.

Symptoms of sickle-cell anaemia:

Symptoms of sickle cell anaemia usually show up at a young age. They may appear in babies as early as 4 months old but generally occur around the 6-month mark. The symptoms include:

• Excessive fatigue due to a lack of oxygen in their tissues or irritability, from anaemia
• Fussiness, in babies
• Bedwetting, from associated kidney problems
• Jaundice- this yellowing of the skin and eyes is due to a buildup of bilirubin, a waste product of red blood cells.
• Swelling and pain in hands and feet
• Frequent infections
• Pain in the chest, back, arms, or legs
• Delayed growth and puberty: Children with sickle cell anaemia may have delayed growth and development due to a lack of oxygen in their tissues.
• Hand-foot syndrome: Infants and young children with sickle cell anaemia may experience pain and swelling in their hands and feet, which can be mistaken for a viral infection.

Causes of sickle-cell anaemia:

Sickle cell anaemia is caused by a genetic mutation in the gene that codes for haemoglobin, the protein in red blood cells that carries oxygen. The mutation causes the production of abnormal haemoglobin called haemoglobin S, which can cause red blood cells to become stiff, sticky, and crescent-shaped (sickle-shaped) when they give up oxygen.

The condition is caused by inheriting two copies of the mutated gene, one from each parent. People with sickle cell anaemia have a pair of haemoglobin S genes, while carriers of the disease have only one haemoglobin S gene and one normal gene. When carriers have children, there is a 25% chance of the child inheriting two normal genes, a 50% chance of inheriting one normal and one sickle cell gene (being a carrier), and a 25% chance of inheriting two sickle cell genes (having the disease).

The mutation that causes sickle cell anaemia is more common in populations with a high frequency of malaria, as it confers a degree of resistance to the disease. This is why the condition is most commonly found in individuals of African descent, but it can also occur in people of Hispanic, Middle Eastern, and Mediterranean ancestry.

Treatment of sickle cell anaemia:

There is currently no cure for sickle cell anaemia, but treatments are available to manage the symptoms and prevent complications. Some common treatments include:

• Pain management: Painful episodes can be managed with pain medication, hydration, and oxygen therapy.
• Antibiotics: People with sickle cell anaemia are at increased risk of infections, so they may need to take antibiotics to prevent and treat infections.
• Hydroxyurea: This medication can increase the production of fetal haemoglobin, which can help reduce the frequency of painful episodes.
• Bone marrow transplant: This is a potential cure for sickle cell anaemia, but it is a complex and risky procedure that is only recommended for a small number of people with the condition.
• Vaccinations: People with sickle cell anaemia are at increased risk of certain infections, so it is important for them to be up-to-date on all recommended vaccinations.
• Rehydration with intravenous fluids: This helps red blood cells return to a normal state. 
• Treating underlying or associated infections: It is an important part of managing the crisis, as the stress of an infection can result in a sickle cell crisis and may also result in complications.