Sickle cell disease is a severe form of anemia that is commonly inherited by people of African descent, says William P. Winter, deputy director of the Howard University Center for Sickle Cell Disease in Northwest. He holds a doctorate in biochemical genetics.
Since the sickle cell gene originated in Africa, it is believed that the condition is the body’s way of adapting in order to survive malaria, he says.
A person who has one normal gene and one sickle cell gene has the sickle trait. If the person’s spouse also carried the trait, the couple’s children could inherit the disease.
The disease involves an abnormal structure of the hemoglobin, which is the oxygen-carrying protein that makes blood red, Mr. Winter says. In the process of delivering oxygen to the tissues, the red blood cells change shape, becoming long and thin, he says. Since they are abnormal, they are destroyed in the liver, causing anemia.
“If a cell is old and feeble and not doing its job, it gets destroyed,” Mr. Winter says. “That’s normal life. In sickle cell, they are being broken down much faster than the body can replace them.”
Most anemias cause people to be tired and unable to perform physical tasks, which affects the person’s quality of life, he says.
Curing sickle cell disease is like trying to “cure” someone of their eye color, Mr. Winter says. With a genetic disease, most doctors focus on sustaining the patient’s life.
Blood transfusions often help, as long as the patient doesn’t become allergic to the transfused blood, Mr. Winter says. In cases of stroke, damaged liver or acute chest syndrome, blood transfusions are particularly important. Also, the drug Hydroxyurea can help prevent episodes of pain associated with sickle cell disease.
In some cases of sickle cell disease, a bone marrow transplant can be extremely effective when it’s accepted by the body, he says. A bone marrow transplant allows the body to make a new set of red blood cells.
“The body could reject the bone marrow,” Mr. Winter says. “It all has to do with having a perfect donor.”
Blood transfusions are almost always necessary when treating Cooley’s anemia, also known as thalassemia major, says Dr. Vasili Berdoukas, honorary pediatrician at the Sydney Children’s Hospital in Australia. He is a leading authority in clinical care and research in thalassemia. He currently lives in Northwest.
The inherited condition usually affects people of Mediterranean, Northern African, Middle Eastern and Asian heritage. Similar to sickle cell disease, the adaptation of the cells in the carrier state, known as thalassemia minor, is thought to protect a child against dying from malaria.
Through the blood transfusions, people with Cooley’s anemia acquire more iron than they need, he says. Therefore, patients also need treatment to remove iron. Otherwise, it could cause organ damage, especially to the heart.
“Because iron is scarce, bodies are made to conserve iron,” Dr. Berdoukas says. “We keep it and have no mechanism for getting rid of it.”
In order to remove iron, Pranav Saha, 25, of Odenton, Md., sleeps with a needle in his stomach that is attached to a pump delivering the medication Desferal. Patients are waiting for a drug that can be taken by mouth to remove the iron.View Entire Story
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