Sickle cell anemia is a chronic inherited disorder of red blood cells, a form of hemolytic anemia. It is characterized by abnormally shaped red blood cells resembling a sickle or crescent, leading to numerous health problems ranging from chronic pain to life-threatening complications.<br /><br />Causes and Genetics<br />Sickle cell anemia is caused by a mutation in the gene responsible for producing hemoglobin, the protein that transports oxygen within blood cells. In this disease, the body produces an abnormal hemoglobin known as hemoglobin S.<br /><br />The disease is inherited in a recessive fashion:<br /><br />If a person inherits the gene from both parents, they will develop the disease.<br /><br />If they inherit it from only one parent, they are considered a "carrier" without severe symptoms.<br /><br />Mechanism of Disease<br />Hemoglobin S causes red blood cells to:<br /><br />be stiff and brittle.<br /><br />take on a sickle shape instead of the normal round shape.<br /><br />stick to the walls of blood vessels, impeding blood flow.<br /><br /> This leads to:<br /><br />Deficit in oxygen supply to tissues.<br /><br />Organ damage.<br /><br />Painful episodes known as "sickle cell crises."<br /><br />Symptoms<br />Symptoms vary from person to person and include:<br /><br />Sudden, severe pain in the chest, joints, or abdomen.<br /><br />Chronic anemia (fatigue, paleness, shortness of breath).<br /><br />Swelling of the hands and feet.<br /><br />Recurrent infections (due to a weak spleen).<br /><br />Vision problems.<br /><br />Delayed growth or puberty.<br /><br />Complications<br />Stroke (especially in children).<br /><br />Kidney failure.<br /><br />Damage to organs such as the liver and lungs.<br /><br />Skin ulcers.<br /><br />Fertility problems in men.<br /><br />Diagnosis<br />Diagnosis is made through:<br /><br />Blood test (CBC).<br /><br />Hemoglobin electrophoresis test to determine the type of hemoglobin.<br /><br />Genetic testing to confirm the responsible mutation.<br /><br />Conclusion<br />Sickle cell anemia is a chronic and complex disease that requires ongoing medical follow-up and psychological and social support. Genetic awareness, premarital screening, and early treatment can make a huge difference in patients' lives.<br />Al-Mustaqbal University is the first university in Iraq.