Advancements in medicine continue to stem the tide of life-threatening illnesses, allowing people to live longer, healthier lives. A blood disorder known as sickle cell anemia once caused the death of many at an early age, but thanks to medical research, that is no longer the case. In the early 1970s, the average lifespan of a person with sickle cell anemia was 14 years. Today, it ranges from 40 to 60 years of age.
In the United States today, approximately 100,000 people are afflicted by this disease, most are of African ancestry. Each year about one in 13 African- American babies are born with the sickle cell trait.
“Sickle cell anemia is an inherited form of anemia, a condition in which there aren’t sufficient healthy red blood cells to carry enough oxygen throughout the body,” says Dr. Gregory Mears, a Columbia University Medical Center hematologist/oncologist with NewYork-Presbyterian Hudson Valley Hospital’s Cheryl R. Lindenbaum Comprehensive Cancer Center in Cortlandt Manor. “Normally, certain genes signal the body to make the red, iron-rich compound that gives blood its color – hemoglobin – that carries oxygen and nutrients to other parts of the body. Sickle cell anemia is caused by a mutation to those genes, such that the red blood cells become rigid, sticky and misshapen, losing their ability to function correctly. The end result is that patients tend to accumulate damage to vital organs such as the kidneys, lungs, and brain, as well as bone and skin damage.”
The defective sickle cell gene is passed from generation to generation, but both the mother and the father must pass it on for a child to be affected. “In this country, newborns are regularly tested for the gene and if they test positive, they will be continually monitored and need treatment throughout life based on when and how the disease manifests,” says Dr. Mears. Certain ethnic groups are particularly at risk for this disease. These include people whose family origins are from Africa, parts of India and the Mediterranean, South and Central America, the Caribbean and the Middle East.
Symptoms of sickle cell anemia vary from person to person and can change over time; the most common of which include:
• Persistent severe anemia: leading to light fatigue, weakness and shortness of breath with exertion.
• Pain: the result of loss of oxygen to tissues of the body. There are many serious problems that can arise from this, including cell death within the bones, and bodily pain.
• Frequent infections: sickle cells can damage the spleen (an organ that fights infection), leaving the patient prone to illness.
Potentially serious complications from having sickle cell anemia require medical attention. According to Dr. Mears, they include “episodes of severe pain, swelling of the hands, feet or abdomen, or frequent fevers. One of the most serious complications of sickle cell anemia is stroke. Call 911 immediately if stroke-like symptoms appear, such as one-sided paralysis or weakness in the face, arms or legs; confusion; trouble walking or talking; sudden vision problems or unexplained numbness; or a headache.”
“One of the frustrations of this disease is the unpredictability of the painful episodes and the accumulation of damage to vital organs,” says Dr. Mears. While there are medications designed to decrease the incidence of painful crises, he said the only cure is a procedure known as stem cell transplantation. “This technique eliminates the patient’s bone marrow stem cells that are producing sickle cells and replaces them with healthy stem cells from a donor. While it does come with some risk, the best outcomes are when stem cells are provided by a sibling who has a similar immune system. At NYP Hudson Valley Hospital, we closely collaborate with our stem cell transplant team at the Herbert Irving Comprehensive Cancer Center[link: http://www.hiccc.columbia.edu/aboutus] at NYP/Columbia University Medical Center to treat patients who require transplantation.”
Research to improve treatment continues. New drugs are showing promise in managing the disease and most notably, gene therapy. Notes Dr. Mears: “Gene therapy involves transplanting normal genes into the blood cells in place of defective ones. This might prove to be an effective treatment of sickle cell anemia, but more time and further research is needed to perfect the technique. Studies will continue to advance our understanding of the mechanics of sickle cell anemia, which will ultimately help us eliminate this dreadful disease once and for all.”
Dr. Mears also notes that couples in high risk populations, who are planning to have children, should consider being tested to see if they carry the abnormal hemoglobin gene that leads to sickle cell disease. A genetics counselor can assist those who test positive to answer questions about risk and available choices.