A Look at Sickle Cell Anemia
By Arlene McKanic, Special to AOL BlackVoices
Sickle cell anemia is a debilitating disease that afflicts one in 12 African Americans. Over 70,000 Americans have sickle cell disease and more than 2 million Americans have the sickle cell trait. Although black Americans are the primary group affected, the disease also occurs in people of Mediterranean and Middle Eastern descent.The Disease
In essence, sickle cell anemia causes the red blood cells of its victims to be "sickle" shaped instead of the round disc shape of normal red blood cells. Because of their warped shape, the red blood cells of an infected person are rigid and sticky within the blood vessels. As sickle cell anemia progresses, it damages the body over many years. Symptoms may begin as early as 9 months of age, after fetal hemoglobin is replaced by adult sickle cell hemoglobin.
"Basically, hemoglobin has two genes that carry traits from both parents," explains Dr. Kenneth Rivlin, a pediatrician at Columbia University Hospital in New York, NY. "Gene A is normal, while gene B causes sickle cell hemoglobin. If a child inherits two A genes, he'll have normal blood. If he inherits a normal gene and a sickle cell gene, he'll have sickle cell trait. But if he inherits two sickle cell genes, he'll have sickle cell anemia." For that reason, physicians strongly advise black parents to be screened for sickle cell trait prior to conceiving a child.
Symptoms
The symptoms of sickle cell anemia are:
• pain episodes, called crises
• hand and foot syndrome, which is when the blood cells in the hands and feet become sickle-shaped, causing swelling
• anemia
• fatigue
• acute chest syndrome, which occurs when the blood is trapped in the lungs and causes pneumonia-like symptoms
• jaundice
Sickled cells clump together within the blood vessels and make circulation of the blood difficult, which leads to the excruciatingly painful crises that may last for hours or days. "It's a disease characterized by the sudden onset of unbelievably severe pain," Rivlin says. In fact, patients are often given the same pain meds given to people with terminal cancer.
The Damage It Does
Sickled cells have a shorter lifespan than normal blood cells; these cells are more fragile and apt to be destroyed when clumping within the blood vessels occurs. Because of the cells' shorter shelf life and inability to deliver oxygen well, sickle cell patients tend to be anemic. The pregnancies of women with the disease are high risk, and the median life span for those with sickle cell anemia is around 50 years.
Sickle cell anemia damages major organ systems. Sickle cell patients are at higher risk of strokes, damaged kidneys, damaged lungs and increased infection. As well, reduced blood flow may cause heart attacks, pulmonary hypertension in the lungs, detached retinas, spleen infections, jaundice and kidney disease. Because organ damage can go undetected initially, comprehensive care is crucial.
As nurse coordinator of the Comprehensive Sickle Cell Disease Program at Brookdale Hospital in Brooklyn, N.Y., Lynette Hinds, RN, helps patients and their families manage the disease, as well as educates staff and promotes awareness of the disease. "We have about 300 pediatric patients and we have 50 or so adult patients with the disease," she says. Hinds checks up on infected children every two months for the first year of life and every three months or whenever necessary after that.
Treatment Is the Only Option
There is no cure for sickle cell anemia, but there are treatments. One is umbilical cord treatment, which involves storing umbilical cord blood from a newborn sibling of a sickle cell patient. "There's a 25 percent chance of the disease in a child if both parents have the trait, so we encourage parents to do cord blood testing [of a new sibling] after the placenta and cord have separated," says Ms. Hinds. If the blood is compatible with the sick child, it is stored for future transfusions. Patients can also opt for a bone marrow transplant.
Nitric oxide therapy is a treatment still in the experimental stages. It initiates dilation of the blood vessels in the lungs, decreasing pressure against the walls of these vessels. This treatment results in the improved release of oxygen into the blood and thus decreases the chance of a crisis.
Studies are also being done with alternative supplements like zinc, hydroxy urea and other medications. Hemoglobin blood transfusions, which involve transfusing red blood cells only, have some risk but are also a viable treatment option.
Toward that end, Hinds urges people in racial minority groups to donate blood. "Outside of the major blood groups, there are proteins on the surface of the red cells that might be ethnic specific, so we're trying to get minorities to be open to donating blood. There will be less chance for an allergic reaction," she says. "Dr. Rivlin is planning a program to get people of the same background to be donors throughout [an infected] child's life. It's the best idea, and we hope it will be realized."
For more information on Sickle Cell Anemia, visit:
The American Sickle Cell Anemia Association
The Sickle Cell Thalassemia Patients Network
877-812-4216
Queens Sickle Cell Advocacy Network Inc.
718-712-0873
qscanorg@verizon.net