Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.
The life expectancy
of persons with sickle cell anemia is reduced. Some
patients, however, can remain without symptoms for years, while others
do not survive infancy or early childhood. Nevertheless, with optimal management patients can now
survive beyond the fourth decade.
Most patients suffer intermittent pain crises, fatigue, bacterial
infections, and progressive tissue and organ damage. Impaired growth
and development is the end result of the physical and emotional
trauma that is endured by children with sickle cell anemia.
Causes of death include bacterial infection (the most common cause),
stroke or bleeding into the brain, and kidney, heart, or liver
failure. The risk of bacterial infections does diminish after three
years of age. Nevertheless, bacterial infections are the most common
cause of death at any age. Therefore, any signs of infection in a
person with sickle cell anemia must be reviewed with a doctor to
prevent damage and save lives.
Interestingly, the sickle cell gene somewhat protects against malaria
infection. This makes those with sickle cell trait (gene carriers)
at least partially resistant to malaria. Furthermore, the
geographic distribution of the sickle cell gene is similar to that of
malaria infection. Sickle cell anemia is a lethal condition that
threatens life. But there may be a selective advantage to being a
sickle cell carrier (trait) if the person resides in an area of the
world where malaria is very common. The advantage a person with
sickle cell trait has over a non-carrier of the gene may explain why
sickle cell anemia did not disappear from the world even though it
is lethal.
The sickle cell gene is not a "black gene." It just happens to
disproportionately occur in the black population. When a black
person who carries a sickle cell gene has children with a non-black
person, the children may inherit the sickle cell gene regardless of
their color. There are also non-black persons who carry the sickle
cell gene.
Recent research is examining further ways to promote the development
of the fetal hemoglobin that delays the development of sickle cell in
the newborn. Bone marrow transplantation is being used for patients
with severe sickle cell anemia who have a genetically identical
sibling that can offer the transplant marrow. Future treatments may
involve genetic engineering where cures might be achieved.
Finally, genetic counseling can be helpful for parents and families
to prevent sickle cell anemia. Sickle cell anemia is an inherited
illness. Both parents must be carriers of the sickle cell gene for a
child to be affected with sickle cell anemia. If each parent is a
carrier, any child has a one chance in two (50%) of also being a
carrier and a one in four (25%) chance of inheriting both genes from
the parents and being affected with sickle cell anemia.
Sickle cell anemia is an inherited disorder of the
hemoglobin in blood.
Sickle cell anemia requires the inheritance of two sickle cell
genes.
Sickle cell trait, which is the inheritance of one sickle gene,
almost never causes problems.
Virtually all of the major symptoms of sickle cell anemia are
the
direct result of the abnormally shaped sickled red blood cells
blocking the flow of blood.
The current treatment of sickle cell anemia is directed
primarily
toward managing the individual features of the illness as they occur.
Reference: Bunn, HF. Pathogenesis and treatment of sickle cell disease. N Engl J Med 1997; 337:762. Harrison's
Principles of Internal Medicine, McGraw-Hill, edited by Eugene Braunwald, et. al., 2001.
Gallstones are stones that form when substances in the bile harden. Gallstones (formed in the gallbladder) can be as small as a grain of sand or as large as a golf ball. There can be just one large stone, hundreds of tiny stones, or any combination. The majority of gallstones do not cause symptoms.
Anemia is the condition of having less than the normal number of red blood cells or less than the normal quantity of hemoglobin in the blood. The oxygen-carrying capacity of the blood is, therefore, decreased.
Liver disease can be cause by a variety of things including infection (hepatitis), diseases such as gallstones, high cholesterol or triglycerides, blood flow obstruction to the liver, and toxins (medications and chemicals). Symptoms of liver disease depends upon the cause; however, common symptoms may include nausea, vomiting, upper right abdominal pain, and jaundice. Treatment depends upon the cause of the liver disease.
Malaria is an infectious disease transmitted by the bite of an infected Anopheles mosquito. Symptoms of malaria include chills, pain, fever, and sweating. Though mild cases of malaria can be treated with oral medication, severe cases require intravenous drug treatment and fluids.
The spleen enlarges if it is asked to do excessive work in filtering or manufacturing blood cells, if there is abnormal blood flow to it, or if it is invaded with abnormal cells or deposits. Symptoms of an enlarged spleen may include weakness and fatigue, easy bleeding, and poor white blood cell function. Treatment of an enlarged spleen is focused toward the cause of the splenomegaly. Surgery may be required to remove the spleen.
Osteomyelitis is an infection of the bone. Potential causes include injections around the bone, fractures that puncture the skin, recent surgeries, and bacterial infections that travel from other areas of the body, spreading through the blood to the bone. Symptoms include pain, fever, chills, stiffness, and nausea. Treatment involves antibiotics and pain medications. Surgery is sometimes necessary.
A brain hemorrhage is a type of stroke caused when an artery bursts in the brain, causing localized bleeding in the surrounding tissue. Causes of brain hemorrhage include aneurysm, liver disease, brain tumor, head trauma, high blood pressure, and blood vessel abnormalities. Symptoms include sudden severe headache, nausea, vomiting, loss of balance, tingling, numbness, vision changes, loss of consciousness, and loss of fine motor skills. Treatment depends upon the cause, location, and size of the brain hemorrhage.
Diabetes insipidus is a condition in which the patient has frequent urination. Symptoms of diabetes insipidus include irritable, listless, fever, vomiting, or diarrhea due to the loss of large volumes of urine. There are three types of diabetes insipidus, central, nephrogenic, dipsogenic, and gestational. Treatment depends upon the type of diabetes insipidus.
Alpha thalassemia is a disorder in which the alpha globin protein is underproduced. There are two pairs of genes that carry the code for the alpha chains of hemoglobin. When one gene is impaired, that person is in a carrier state and suffers no medical problems. When four genes are impaired, the production of fetal and adult hemoglobin is prevented, resulting in hydrops fetalis and leading to death before birth.
Pregnancy planning is important to help prevent exposure of the mother and fetus to potentially harmful medications and substances during the early days, and throughout the pregnancy. Nutritional planning, prevention of birth defects, conditions such as high blood pressure, heart disease, diabetes, and kidney disease need careful monitoring. Gestational diabetes, preeclampsia, and pregnancy induced hypertension are conditions that may arise during pregnancy. Immunizations, inherited disorders, exercise, air travel, intercourse, and birth control are important factors to consider when planning a pregnancy.
Septic arthritis, or infectious arthritis, is infection of one or more joints by bacteria, viruses, or fungi. Symptoms and signs of septic arthritis include fever, joint pain, chills, swelling, redness, warmth, and stiffness. Treatment involves antibiotics and the drainage of the infected joint.
Aseptic necrosis (avascular necrosis or osteonecrosis) is a condition that develops when blood supply diminishes to an area of bone and causes bone death. Though aseptic necrosis may be painless, pain is often associated when the degenerating bone is used. If caught early, aseptic necrosis may be treated by grafting new bone into the degenerating area. In later stages, joint replacement surgery may be required.
Your health care provider may refer you to a genetic professional. Universities and medical centers also often have affiliated genetic professionals, or can provide referrals to a genetic professional or genetics clinic. Genetic counseling provides patients and family members the tools to make the right choice in regard to test for a disease or condition.
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