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.
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 that circulates through the tissues of the
body. The tissues with impaired circulation suffer damage from lack
of oxygen. Damage to tissues and organs of the body can cause severe
disability in patients with sickle cell anemia. The patients endure
episodes of intermittent "crises" of variable frequency and severity,
depending on the degree of organ involvement.
Some features of sickle cell anemia, such as fatigue, anemia, pain
crises, and bone infarcts can occur at any age. Many features
typically occur in certain age groups.
Sickle cell anemia usually first presents symptoms in the first year of life. Infants and younger children
can suffer with fever, abdominal pain, pneumococcal bacterial infections, painful swellings of the hands and feet (dactylitis), and
splenic sequestration. Adolescents and young adults more commonly
develop leg ulcers, aseptic necrosis, and eye damage. Symptoms in adult typically are intermittent pain episodes due to injury of bone, muscle, or internal organs.
Affected infants do not develop symptoms in the first few months of
life because the hemoglobin produced by the developing fetus (fetal
hemoglobin) protects the red blood cells from sickling. This fetal
hemoglobin is absent in the red blood cells that are produced after
birth so that by 5 months of age, the sickling of the red blood cells
is prominent and symptoms begin.
The treatment of sickle cell anemia is designed according to which
of the individual features of the illness are present. In general treatment is directed at the management and prevention of the acute manifestations as well as therapies directed toward blocking the red blood cells from stacking together. There is no
single remedy to reverse the anemia. It is, therefore, important
that family members have an optimal understanding of the illness and
that communication with the doctors and medical personnel be
maintained.
Fatigue and Anemia
Fatigue is a common symptom in persons with sickle cell anemia.
Sickle cell anemia causes a chronic form of anemia which can lead to
fatigue. The sickled red blood cells are prone to breakage (rupture)
which causes a much shorter life span of these cells (the normal life
span of a red blood cell is 120 days). These sickled red blood cells
are easily detected with a microscope examination of a smear of blood
on a glass slide.
Typically, the site of red blood cell production (bone marrow) works
overtime to produce these cells rapidly, attempting to compensate for
their destruction in the circulation. Occasionally, the bone marrow
suddenly stops producing the red blood cells which causes a very
severe form of anemia (aplastic crises). Aplastic crises can be
promoted by infections that otherwise would seem less significant,
including viruses of the stomach and bowels and the flu (influenza).
The anemia of sickle cell anemia tends to stabilize without specific
treatments. The degree of anemia is defined by measurement of the
blood hemoglobin level. Hemoglobin is the protein molecule in red
blood cells which carries oxygen from the lungs to the body's tissues
and returns carbon dioxide from the tissues to the lungs. Blood
hemoglobin levels in persons with sickle cell anemia are generally
between 6 to 8 gms/dl (normal levels are above 11 gms/dl).
Occasionally, there can be a severe drop in hemoglobin requiring a
blood transfusion to correct the anemia (such as in patients
suffering splenic sequestration). Blood transfusion is usually
reserved for those patients with other complications, including
pneumonia, lung infarction, stroke, severe leg ulceration, or late
pregnancy. (Among the risks of blood transfusion are hepatitis,
infection, immune reaction, and injury to body tissues from iron
overload.) Transfusions are also given to patients to prepare them
for surgical procedures. Folic acid is given as a supplement.
Pain Crises
Pain crises in persons with sickle cell anemia are intermittent
painful episodes that are the result of inadequate blood supply to
body tissues. The impaired circulation is caused by the blockage of
various blood vessels from the sickling of red blood cells. The
sickled red blood cells slow or completely impede the normal flow of
blood through the tissues. This leads to excruciating pain requiring
hospitalization and narcotic medication for relief. The pain
typically is throbbing and can change its location from one body area
to another. Bone is frequently affected. Pain in the abdomen with tenderness is common and can
mimic appendicitis. Fever frequently is associated with the pain
crises.
A pain crisis can be promoted by preceding dehydration, infection,
injury, cold exposure, emotional stress, or strenuous exercise. As a
prevention measure, persons with sickle cell anemia should avoid
extremes of heat and cold.
Pain crises require medications for pain and increased fluid intake.
Dehydration must be prevented to avoid further injury to the tissues
and intravenous fluids can be necessary. Along with the fluids clotrimazole and magnesium are often given. Other modalities, such as biofeedback, self-hypnosis, and/or electrical nerve stimulation may be helpful.
Hydroxyurea is a medication that is currently
being used in adults and children with severe pain from sickle cell
anemia. It is also considered for those with recurrent strokes and frequent transfusions. This drug acts by increasing the amount of fetal hemoglobin
in the blood (this form of hemoglobin is resistant to sickling of the
red blood cells). The response to hydroxyurea is variable and
unpredictable from patient to patient. Hydroxyurea can be toxic to
the bone marrow.
Dactylitis and Arthritis
Swelling and inflammation of the hands and/or feet is often an early
sign of sickle cell anemia. The swelling involves entire fingers
and/or toes and is called dactylitis. Dactylitis is caused by injury
to the bones of the affected digits by repeated episodes of
inadequate blood circulation. Dactylitis generally occurs in
children with sickle cell anemia from age 6 months to 8 years.
Joint inflammation (arthritis) with pain, swelling, tenderness, and
limited range of motion can accompany the dactylitis. Sometimes, not
only the joints of the hands or feet are affected, but also a knee or
an elbow.
The inflammation from dactylitis and arthritis can be reduced by anti-inflammation medications, such as ibuprofen and aspirin.
Bacterial Infection
Lung infection (pneumonia) is extremely common in children with
sickle cell anemia and is also the most common reason for
hospitalization. Pneumonia can be slow to respond to antibiotics.
The type of bacteria that is frequently the cause of pneumonia is
called pneumococcus bacteria. (This is, in part, due to the increased
susceptibility to this particular bacteria when the spleen is poorly
functioning.) Vaccination against pneumococcal infection is generally recommended.
Children with sickle cell anemia are also at risk for infection of
the brain and spinal fluid (meningitis). Bacteria that are frequent
causes of this infection include the Pneumococcus and Haemophilus
bacteria.
Furthermore, children with sickle cell anemia are at risk for an
unusual form of bone infection (osteomyelitis). The infection is
typically from a bacteria called Salmonella.
Bacterial infections can be serious and even overwhelming for
patients with sickle cell anemia. Early detection and antibiotic
treatment are the keys to minimizing complications. Any child with
known sickle cell anemia must be evaluated by medical professionals
when fever or other signs of infection (such as unexplained pain or
cough) appear.
Splenic Sequestration and Liver Congestion
It has been demonstrated that the liver, and especially the spleen,
are organs that are very active in removing sickled red blood cells
from the circulation of persons with sickle cell anemia. This
process can accelerate suddenly. Sudden pooling of blood in the
spleen is referred to as splenic sequestration.
Splenic sequestration can cause very severe anemia and even result in
death.
The spleen is commonly enlarged (splenomegaly) in younger children
with sickle cell anemia. As the spleen is repeatedly injured by
damage from impaired blood supply, it gradually shrinks with
scarring. Impairment of the normal function of the spleen increases
the tendency to become infected with bacteria.
Sudden pooling of blood in the spleen (splenic sequestration) can
result in a very severe anemia and death. These patients can develop
shock and lose consciousness. Transfusion of blood and fluids can be
critical if this occurs.
Liver enlargement (hepatomegaly) occurs as it becomes congested with
red blood cells as well. The liver is often firm and can become
tender. Impaired liver function can result in yellowing of the eyes
(jaundice). The gallbladder, which drains bile from the liver, can
fill with gallstones. Inflammation of the gallbladder (cholecystitis) can cause
nausea and vomiting and require its removal.
Lung and Heart Injury
Aside from lung infection (pneumonia), the lungs of children with
sickle cell anemia can also be injured by inadequate circulation of
blood which causes areas of tissue death. This lung damage can be
difficult to distinguish from pneumonia. These localized areas of
lung tissue damage are referred to as pulmonary infarcts. Pulmonary
infarcts often require a special x-ray test using a dye injected into
the affected areas (angiogram) for diagnosis. Repeated pulmonary
infarcts can lead to scarring of the lungs of children with sickle
cell anemia by the time they reach adolescence.
The heart is frequently enlarged in children with sickle cell
anemia. Rapid heart rates and murmurs are common. The heart muscle
can also be injured by infarcts and iron depositing in the muscle as
it leaks from the ruptured red blood cells.
Injuries to the lungs or heart are treated according to the specific
type of damage and the degree of impairment of organ function. Supplementary oxygen can be required.
Infections of the lungs require aggressive antibiotics. Transfusions
can sometimes help prevent further damage to the lung tissue. Heart
failure can require chronic heart medications to assist the heart in
pumping blood to the body.
Leg Ulcers
The legs of patients with sickle cell anemia are susceptible to skin
breakdown and ulceration. This seems to be a result of the stagnant
blood flow caused by the sickled red blood cells. Injury to the skin
of the legs or ankles can promote skin damage and ulceration.
Leg ulcers most commonly occur in adults and usually form over the
ankles and sides of the lower legs. The ulcers can become severe,
even encircling the leg, and are prone to infection.
Leg ulcers can become chronic and resistant to many treatments. Oral
antibiotics and topical creams are often used. Elevation of the leg,
careful dressing changes, and other topical therapies can be
helpful. Some ulcers can be so resistant that skin grafting is
recommended, though this is not without the possibility of poor
healing.
Aseptic Necrosis and Bone Infarcts
Inadequate circulation of the blood, which is characteristic of
sickle cell anemia, also causes areas of death of bone tissue (bone
infarction). Aseptic necrosis, or localized bone death, is a result
of inadequate oxygen supply to the bone. Aseptic necrosis is also
referred to as osteonecrosis.
While virtually any bone can be affected, the most common are the
bones of the thighs, legs, and arms. The result can permanently
damage or deform the hips, shoulders, or knees. Pain, tenderness,
and disability frequently are signs of aseptic necrosis. Painful bone
infarcts can be relieved by rest and pain medications.
Aseptic necrosis can permanently damage large joints (such as the
hips or shoulders). Local pain can be relieved and worsening of the
condition can be prevented by avoiding weight bearing. With more
severe damage, total joint replacement may be needed to restore
function.
Eye Damage
The critical area of the eye that normally senses light is called the
retina. The retina is in the back of the eye and is nourished by
many tiny blood vessels. Impairment of the circulation from the
sickling of red blood cells results in damage to the retina
(retinopathy). The result can be partial or complete blindness.
Bleeding can also occur within the eye (retinal hemorrhage) and
retinal detachment can result. Retinal detachment can lead to
blindness.
Once blindness occurs, it is usually permanent. Preventative
measures, such as laser treatments, can be used if bleeding into the
eye and retinal detachment are detected early.
Other Features
Additional features of sickle cell anemia include weakening of bones
from osteoporosis, kidney damage and infection, and nervous system
damage. Osteoporosis can lead to severe pain in the back and
deformity from collapse of the bony building blocks (vertebrae) of
the spine. Kidney damage can lead to poor kidney function with a
resulting imbalance of blood sodium and acidity as well as bleeding
into the urine. Kidney infection can cause pelvic pain and require
hospitalization with antibiotic treatment. Injury to the nervous
system can result from meningitis or sickle cell anemia itself.
Poor blood circulation in the brain can cause stroke, convulsions,
and coma.
Damage to the brain from stroke can cause permanent loss of function
to areas of the body. Transfusion of blood and fluids intravenously
can be critical. Medications to reduce the chance of seizures are
sometimes added. If stroke results in long-term impairment of
function, physical therapy, speech therapy, and occupational therapy
can be helpful.
Priapism, an abnormally persistent erection of the penis in the
absence of sexual desire, can occur in persons with sickle cell anemia. Priapism can lead to impotence.
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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