Approximately 1 in every 36,000 Hispanics in the United States suffers from sickle cell disease, a hereditary condition where abnormal hemoglobin S in red blood cells causes them to have a crescent shape rather than that of a disk. According to the National Heart, Lung, and Blood Institute, sickle cell disease prevents appropriate levels of oxygen from being carried throughout the body, often resulting in weakness, fatigue, shortness of breath and even death.
For most minorities in the United States, sickle cell disease is a common concern; it is the most frequent hereditary abnormality seen in the United States, affecting more than 100,000 individuals, and most often seen among Hispanics, African-Americans and people of Asian descent.
But as medical technology and scientific understanding of this condition improve, new treatment methods may be able to cure sickle cell disease as early as infancy–while a child is still in the womb. According to preliminary research, experts feel they will soon be able to successfully transplant healthy bone marrow into a fetus, allowing the child to be born with a new, healthy blood manufacturing system.
The key is to be able to identify sickle cell disease as early as possible, and this often means identifying it in the parents first.
Sickle cell disease, also known as sickle cell anemia, is passed on genetically through a process known as autosomal recessive inheritance, which means both the mother and the father must have the damaged gene responsible for improper red blood cell production.
How can sickle cell disease be cured in the womb?
While oxygen deprivation is a concern for individuals with sickle cell disease, the Mayo Clinic indicates there are other reasons this condition can be considered life-threatening. In a healthy individual, red blood cells usually are flexible and round, capable of moving with ease throughout the blood vessels of the body. Sickle cells, however, tend to get stuck in the vessels, and these blockages not only slow oxygen flow to internal organs but often result in tissue damage.
“The spleen gets clogged up completely and doesn’t work anymore,” Dr. Kwaku Ohene Frempong, the director emeritus of the sickle cell center at Children’s Hospital of Philadelphia, told ABC News. “If this (bone marrow transplant) works, the healthy cells from the mother or the father will become the dominant cells in the baby. It will make the baby grow up having regular blood.”
Bone marrow transplants are growing in popularity as therapy for a number of blood illnesses, including HIV. The National Cancer Institute (NCI) indicates bone marrow therapy is successful because it replaces unhealthy blood cells right at the source.
“Bone marrow is the soft, sponge-like material found inside bones. It contains immature cells known as hematopoietic or blood-forming stem cells,” states the NCI. “(Hematopoietic stem cells are different from embryonic stem cells. Embryonic stem cells can develop into every type of cell in the body.) Hematopoietic stem cells divide to form more blood-forming stem cells, or they mature into one of three types of blood cells: white blood cells, which fight infection; red blood cells, which carry oxygen; and platelets, which help the blood to clot.”
By replacing bone marrow in an infant, experts will be able to dictate what quality of blood cells are produced for the rest of that individual’s life. While human clinical studies on this promising sickle cell treatment are at least 2 years away, families that are aware they have sickle cell traits passed down through the generations can look forward to a potential cure for children and grandchildren in the near future.
Originally published on VOXXI as Stopping sickle cell disease in the womb; a potential solution for Hispanics?
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