Perhaps one of the most familiar -- and least understood -- forms of anemia is sickle cell anemia. An inherited disorder, sickle cell anemia causes crescent moon-shaped red blood cells.
Red blood cells are charged with the task of delivering oxygen from the lungs to the rest of the body, picking up carbon dioxide along the way and delivering it back to the lungs to be expelled.
The irregular crescent moon-shaped red blood cells are unable to move quickly through the blood stream, may become stuck in other smaller blood vessels and are generally inefficient in delivering much-needed oxygen to vital organs. They also die much more quickly than normal red blood cells, creating a constant shortage in the red blood cell supply chain.
When this happens, the healthy red blood cells, which are much too few in number in persons with sickle cell anemia, become overtaxed and are unable to adequately supply the body with all of its oxygen needs.
Sickle cell anemia is more common in certain ethnicities than others. In the United States, persons of African-American descent are more likely to inherit this disorder. Some estimates are that one out of every 12 African-Americans is affected by sickle cell anemia.
However, African-American is not the only ethnic group at risk for sickle cell anemia. Persons from South and Central America have an increased risk of sickle cell anemia, particularly in the Panama area. In addition, persons from the Caribbean islands, India, Saudi Arabia, Greece, Italy, and Turkey are also more likely to inherit this form of anemia.
Although diagnosis can occur later in childhood, sickle cell anemia symptoms generally manifest during infancy. Some common sickle cell anemia symptoms include:
• Anemia
• Fatigue
• Pain -- called a crisis -- in chest, abdomen, joints, and bones may be mild or severe and may last short-term or a relatively long time
• Spleen damage
• Infections – spleen damage impairs the ability to fight infection leaving those with sickle cell anemia susceptible to infections
• Hand-foot syndrome – swelling of hands and feet
• Stunted growth and delayed puberty
• Vision problems, including retina damage
• Swollen abdomen
• Pale skin or nail beds
• Yellowish skin
• Stroke-like symptoms such as blurry vision, confusion, difficulty talking, numbness, weakness or paralysis on one side of the body, or difficulty walking.
Because blood flow is impaired, there are many complications from sickle cell anemia, some of which are quite serious. Common sickle cell anemia complications may include conditions such as stroke, acute chest syndrome, blindness, skin ulcers and gallstones.
Sometimes persons with sickle cell anemia may develop pulmonary hypertension or high blood pressure in the lungs which can be fatal. Another potential life-threatening sickle cell anemia complication is damage to vital organs such as the liver, kidneys, or spleen.
Male sickle cell anemia victims also need to worry about a condition called priapism which causes erections that are painful and last longer than normal. Priapism frequently leads to impotence.
Sickle cell anemia is usually treated by treating symptoms and trying to prevent
complications and crises events. Common treatments include fever reducers, pain relievers, blood transfusions, oxygen, and antibiotics. Other medications such as Hydroxyurea, also known as Droxia and Hydrea, may result in fewer crisis events and blood transfusions. In more serious sickle cell anemia cases, a stem cell or bone marrow transplant may be required.
Sickle cell anemia is caused by a mutation of a particular gene. In order for a person to develop sickle cell anemia, she must inherit the mutated gene from both parents. This is referred to as autosomal recessive inheritance.
If only one parent has the gene, the child may become a carrier, which means that the child carries the gene and may pass it on to her children. Persons with a family history of sickle cell anemia may want to consider genetic testing and counseling before starting a family to understand the risk to their future children.
Sources:
Sickle Cell Anemia. The Mayo Clinic. 26 March 2011. http://www.mayoclinic.com/health/sickle-cell-anemia/DS00324
What is Sickle Cell Anemia? National Heart Lung and Blood Institute. 01 Feb 2011. http://www.nhlbi.nih.gov/health/health-topics/topics/sca
Reviewed October 19, 2011
by Michele Blacksberg RN
Edited by Malu Banuelos