Description

Sickle cell disease is a genetic blood disorder caused by a mutation in the HBB gene, leading to abnormal hemoglobin (HbS). This causes red blood cells (RBCs) to become rigid, sticky, and sickle-shaped, resulting in blockages, pain, and organ damage. Types of Sickle Cell Disease HbSS (Sickle Cell Anemia) – Most severe form (inherits HbS from both parents). HbSC – Milder symptoms (one HbS + one abnormal HbC gene). HbS Beta-Thalassemia – Varies in severity (one HbS + one beta-thalassemia gene). Sickle Cell Trait (HbAS) – Carrier state (usually no symptoms). Symptoms & Complications Acute Symptoms (Sickle Cell Crisis) Vaso-occlusive crisis (VOC) – Severe pain due to blocked blood flow (arms, legs, chest, back). Acute Chest Syndrome – Life-threatening lung blockage (fever, cough, chest pain). Splenic Sequestration – Spleen traps RBCs → sudden anemia, shock. Stroke – Blocked blood flow to the brain. Chronic Complications Anemia (fatigue, pale skin, jaundice). Organ damage (kidneys, liver, lungs, heart). Leg ulcers (poor blood circulation). Increased infections (due to spleen dysfunction). Delayed growth (in children). Causes & Inheritance Autosomal recessive disorder (both parents must pass the defective gene). More common in people of African, Mediterranean, Middle Eastern, or Indian ancestry. Diagnosis Newborn Screening (routine in many countries). Hemoglobin Electrophoresis – Confirms HbS. Complete Blood Count (CBC) – Shows anemia, high reticulocytes. Peripheral Blood Smear – Reveals sickle-shaped RBCs. Genetic Testing – Identifies mutations. Treatment & Management 1. Disease-Modifying Therapies Hydroxyurea – Increases fetal hemoglobin (HbF), reducing sickling. L-Glutamine Oral Therapy – Reduces oxidative stress. Crizanlizumab (Adakveo) – Prevents blood cell clumping. Voxelotor (Oxbryta) – Improves hemoglobin levels. 2. Curative Treatments Bone Marrow Transplant (BMT) – Only cure (requires matched donor). Gene Therapy (Emerging) – CRISPR-based therapies (e.g., Casgevy, Lyfgenia) now FDA-approved. 3. Supportive Care Pain management (NSAIDs, opioids during crises). Blood transfusions (for severe anemia/stroke prevention). Vaccines & antibiotics (prevents infections, especially pneumococcal). Folic acid supplements (supports RBC production). Prevention & Lifestyle Tips ✔ Stay hydrated (prevents sickling). ✔ Avoid extreme temperatures (cold/heat can trigger crises). ✔ Regular medical check-ups (monitor organ function). ✔ Vaccinations (flu, pneumococcal, COVID-19). ✔ Genetic counseling (for family planning).

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