Sickle cell trait occurs in approximately 300 million people worldwide. The term “sickle cell disease” covers a group of genetic blood disorders caused by sickle hemoglobin S (HbS) alone or in combination with other variants of the β-globin locus. Red blood cells become sickle-shaped (crescent shaped) and have difficulty passing through small blood vessels. Sickle cell disease occurs frequently in sub-Saharan Africa, but is also common in Turkey, Greece, Sicily, the Middle East, India, and in America. Tissue that does not receive a normal blood flow eventually becomes damaged. This is what causes the complications of sickle cell disease. There is currently no universal cure for sickle cell disease. Hemoglobin is the main substance of the red blood cell. It helps red blood cells carry oxygen from the air in our lungs to all parts of the body. Normal red blood cells contain hemoglobin A. Normal red blood cells that contain hemoglobin A are soft and round and can squeeze through tiny blood tubes (vessels). Normally, red blood cells live for about 120 days before new ones replace them.
There are three common types of Sickle Cell Disease:
. Hemoglobin SS Disease, Hemoglobin SC Disease
. Sickle Beta-Plus Thalassemia
• Sickle Beta-Zero Thalassemia.
Syndrome Current cumulative evidence is convincing for associations with hematuria, renal papillary necrosis, hyposthenuria, splenic infarction, exertional rhabdomyolysis, and exerciserelated sudden death. Sickle cell trait is probably associated with complicated hyphemia, venous thromboembolic events, fetal loss, neonatal deaths, and preeclampsia, and possibly associated with acute chest syndrome, asymptomatic bacteriuria, and anemia in pregnancy. There is however, insufficient evidence to suggest an independent association with retinopathy, cholelithiasis, priapism, leg ulcers, liver necrosis, avascular necrosis of the femoral head, and stroke. But studies have shown a direct link to some of these disease processes. The sickle cells also block the flow of blood through vessels resulting in lung tissue damage (acute chest syndrome), pain episodes (commonly in the arms, legs, chest, and abdomen), stroke and priapism (painful prolonged and unwanted erection). It also causes damage to most organs including the spleen, kidneys, eyes, and liver. Damage to the spleen makes sickle cell disease patients, especially young children, easily infected by certain bacterial. Therefore, any fever in someone with sickle cell disease must be taken very seriously.
Treatment of complications often includes antibiotics, pain management, intravenous fluids, blood transfusion and surgery all backed by psychosocial support. Like all patients with chronic disease patients are best managed in a comprehensive multi-disciplinary program of care.
Supportive Medical Links:
• SCDAA Sickle Cell Disease Educational Information Repository
• American Society of Hematology
• Centers for Disease Control • Emory University Sickle Cell Information Center
• International Alliance for Pediatric Stroke
• National Foundation for Transplants
• National Marrow Donor Program
• National Organization for Rare Disorders
• U.S. Pain Foundation
• Your Genes, Your Health