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All You Need To Know About Sickle Cell Disease

Early diagnosis and proper management are key to improving quality of life for those living with this lifelong condition.

All You Need To Know About Sickle Cell Disease

All You Need To Know About Sickle Cell Disease

Sickle Cell Disease (SCD) is a genetic blood disorder that affects millions globally, especially in India's tribal and rural populations. According to the World Health Organisation (WHO), it is one of the most prevalent inherited diseases worldwide, caused by a mutation in the haemoglobin gene. This mutation results in the production of abnormally shaped red blood cells that resemble a sickle, hence the name. These misshapen cells can block blood flow, leading to severe pain, organ damage, and even stroke. Early diagnosis and proper management are key to improving quality of life for those living with this lifelong condition.

What causes sickle cell disease?

SCD is an inherited condition passed on when both parents carry the sickle cell gene. Instead of round, flexible red blood cells, affected individuals produce crescent-shaped cells that are rigid and sticky. These cells die early and clog blood vessels, leading to chronic anaemia and painful episodes known as sickle cell crises.



Common symptoms and signs of sickle cell disease

Symptoms usually appear around 5-6 months of age and can vary in severity throughout life.



1. Anaemia

Chronic fatigue, weakness, and pale skin due to reduced red blood cells

2. Pain crises

Sudden, severe pain in the chest, back, joints, or limbs

3. Swelling in hands and feet

Often the first sign in infants

4. Frequent infections

Damaged spleen makes patients more prone to bacterial infections

5. Delayed growth or puberty

Due to reduced oxygen and nutrients

6. Vision problems

Blocked blood vessels can damage the retina

Diagnosis of sickle cell disease

SCD can be diagnosed through a simple blood test. Early diagnosis is vital to begin preventive care and reduce complications.

1. Newborn screening

Mandatory in many Indian states, helps detect SCD early

2. Haemoglobin electrophoresis

Confirms the presence of abnormal haemoglobin

3. Prenatal testing

Available for expecting parents with a family history

Health complications associated with SCD

Sickle cell disease can lead to life-threatening complications if not managed well.

1. Stroke

Caused by blocked blood vessels in the brain

2. Acute chest syndrome

Similar to pneumonia, caused by trapped sickle cells

3. Organ damage

Long-term oxygen deprivation affects the liver, kidney, and heart

4. Leg ulcers and bone damage

5. Psychological stress

Chronic illness often affects mental well-being

Treatment and management

There is no universal cure for SCD yet, but treatment options focus on reducing symptoms and preventing complications. According to the Centres for Disease Control and Prevention (CDC), comprehensive care including regular health check-ups can significantly improve the life expectancy of patients.

1. Hydroxyurea

A medication that reduces frequency of pain episodes and the need for blood transfusions

2. Blood transfusions

Help manage severe anaemia and prevent stroke

3. Pain management

With anti-inflammatory drugs and sometimes opioids

4. Bone marrow transplant

The only potential cure, mostly in children with severe symptoms

5. Vaccinations and antibiotics

To prevent infections

Living with sickle cell disease

Lifestyle modifications play a crucial role in managing SCD.

a. Stay hydrated to prevent sickling of red blood cells

b. Avoid extreme temperatures, high altitudes, and strenuous activities

c. Regular exercise, gentle physical activity can improve circulation

d. Balanced diet, rich in iron, folate, and vitamin D

e. Mental health support, counselling and support groups are beneficial

Government initiatives in India

India launched the National Sickle Cell Anaemia Elimination Mission (2023) to eliminate the disease by 2047. The focus is on widespread screening in tribal regions, genetic counselling, prenatal testing, and free treatment and awareness programmes. This is a critical step toward reducing the disease burden in states like Chhattisgarh, Odisha, Gujarat, and Maharashtra.

Sickle Cell Disease may be lifelong, but it doesn't have to define one's life. With early diagnosis, regular treatment, and supportive care, individuals with SCD can lead full and productive lives. Increased awareness, especially in high-risk communities, and government-led efforts can together help combat this inherited condition and ensure a healthier future for generations to come.


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