Sickle Cell Anaemia (SCA) is a serious genetic blood disorder that affects the haemoglobin, the protein in red blood cells that distributes oxygen throughout the body. Normal, red blood cells survive approximately 120 days while sickle cells only live 10 to 20 days therefore the body is always in a state of scarcity.
Sickle Cell Anemia (SCA) is a severe and inherited blood disease where the hemoglobin (the protein inside red blood cells) that transports oxygen in the body is altered. Normal red blood cells live for about 120 days, sickle cells die in just 10 to 20 days, leaving the body in a constant stage of shortage.
What happens to the cells?
SCA is a genetic mutation that causes abnormal hemoglobin. Such abnormal hemoglobin molecules will form rigid fibers in low oxygen levels. The normally flexible, doughnut-shaped red blood cells bend and distort into a rigid crescent or “sickle” shape. Unlike healthy red blood cells that glide smoothly through capillaries, sickled cells are stiff and sticky. They break down quickly (hemolysis) and can quickly locate themselves in narrow blood vessels and block them, starving the cells of oxygen.
The Sickle Cell Crisis. The hallmark of SCA is high-level, unpredictable pain that is driven by the various crisis: Vaso-occlusive Crisis: Sickled cells plug microvasculature and cause acute ischemia (tissue starvation) and excruciating pain. Aplastic Crisis: Most commonly due to viral infections, bone marrow stops generating new red blood cells, causing a sudden drop in hemoglobin. Sequestration Crisis: A surge of blood is suddenly produced in the blood vessels such as the spleen, resulting in a life-threatening hypovolemic shock. Hyper Hemolytic Crisis: This condition leads to rapid destruction of red blood cells and exacerbation of anemia. Systemic Complications. Over time, chronic vessel blockages and tissue damage lead to widespread multi-organ complications.
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How it affects the body - Major Complications: Pulmonary: The patients are at risk of Acute Chest Syndrome (a life-threatening combination of infection and tissue death in the lungs) and pulmonary hypertension. Cardiac: The heart is overworked to pump oxygen-poor blood, resulting in left ventricular hypertrophy (enlargement) and heart attack. Central Nervous System: The blocked cerebral vessels can lead to an ischemic stroke. Genitourinary: The kidney’s vessels are damaged and they eventually go into renal failure. Musculoskeletal: Young children often develop dactylitis (painful hand-foot swelling). Long term blockages can cause bone infarction, avascular necrosis (bone tissue death), osteoporosis, and susceptibility to infections such as osteomyelitis and septic arthritis. Hepatobiliary: Blocked hepatic vessels trigger an Acute Sickle Hepatic Crisis and can damage liver tissue.
Who is at risk?
SCA is an autosomal recessive genetic disease and a child has to have two abnormal sickle cell genes (one from each parent) to develop the disease. Young people with only one abnormal sickle cell gene carry the sickle cell trait by inheritance. Carriers will likely live their life without symptoms but can pass the mutated gene on to their children. Diagnosis and Screening Early detection is crucial to prevent any serious complications.
How is it Diagnosed?
Diagnosis can be made through:
Complete Blood Count (CBC) and peripheral blood smear to detect cell shape.
Indicators of hemolysis - high levels of LDH (lactate dehydrogenase), LFT (liver function test), and decreased levels of haptoglobin indicate that cell destruction is happening quickly.
Confirming the diagnosis: Hemoglobin electrophoresis, HPLC (high-performance liquid chromatography).
Treatment and Management
Although there is no universal cure for all patients, advances in treatment have significantly improved outcomes. Management may include: Regular folic acid supplementation Adequate Hydration Pain Management during crisis using NSAIDs, Acetaminophen Prevention and treatment of infections Blood transfusion when necessary Disease- modifying therapies such as Hydroxyurea, L-glutamine, Crizanlizumab and medications such as DNA methyltransferase inhibitors – Azacitidine, Decitabine Stem cell transplantation in selected patients Gene Therapy A Message on World Sickle Cell Day
Fatigue that repeats, along with pains lacking clear cause, deserves attention. When tiredness appears often, and muscles ache without reason, it signals something deeper may be present. Routine screening brings clarity through facts rather than fear. On this World Sickle Cell Day, let’s pledge to screen early, understand the traits, and help those living with SCA live longer, healthier, pain-free lives.
Dr. Jenny Elizabeth George Associate Consultant Hemato Oncology Apollo Adlux Hospital, Angamaly
