Diagnosis
A blood test can check for hemoglobin S the defective form of hemoglobin that underlies sickle cell anemia. In the United States, this blood test is part of routine newborn screening done at the hospital. But older children and adults can be tested, too.

In adults, a blood sample is drawn from a vein in the arm. In young children and babies, the blood sample is usually collected from a finger or heel. The sample is then sent to a laboratory, where it's screened for hemoglobin S.

If the screening test is negative, there is no sickle cell gene present. If the screening test is positive, further tests will be done to determine whether one or two sickle cell genes are present.

Additional tests
If you or your child has sickle cell anemia, a blood test to check for a low red blood cell count (anemia) will be done. Your doctor might suggest additional tests to check for possible complications of the disease.

If you or your child carries the sickle cell gene, you'll likely be referred to a genetic counselor.

Tests to detect sickle cell genes before birth
Sickle cell disease can be diagnosed in an unborn baby by sampling some of the fluid surrounding the baby in the mother's womb (amniotic fluid) to look for the sickle cell gene. If you or your partner has been diagnosed with sickle cell anemia or sickle cell trait, ask your doctor about whether you should consider this screening. Ask for a referral to a genetic counselor who can help you understand the risk to your baby.

Treatment
Bone marrow transplant, also known as stem cell transplant, offers the only potential cure for sickle cell anemia. It's usually reserved for people younger than age 16 because the risks increase for people older than 16. Finding a donor is difficult, and the procedure has serious risks associated with it, including death.

As a result, treatment for sickle cell anemia is usually aimed at avoiding crises, relieving symptoms and preventing complications. Babies and children age 2 and younger with sickle cell anemia should make frequent visits to a doctor. Children older than 2 and adults with sickle cell anemia should see a doctor at least once a year, according to the Centers for Disease Control and Prevention.

Treatments might include medications to reduce pain and prevent complications, and blood transfusions, as well as a bone marrow transplant.

Medications
Medications used to treat sickle cell anemia include:

Antibiotics. Children with sickle cell anemia may begin taking the antibiotic penicillin when they're about 2 months old and continue taking it until they're at least 5 years old. Doing so helps prevent infections, such as pneumonia, which can be life-threatening to an infant or child with sickle cell anemia.

As an adult, if you've had your spleen removed or had pneumonia, you might need to take penicillin throughout your life.

Pain-relieving medications. To relieve pain during a sickle cell crisis, your doctor might prescribe pain medications.
Hydroxyurea (Droxia, Hydrea). When taken daily, hydroxyurea reduces the frequency of painful crises and might reduce the need for blood transfusions and hospitalizations. Hydroxyurea seems to work by stimulating production of fetal hemoglobin a type of hemoglobin found in newborns that helps prevent the formation of sickle cells.

Hydroxyurea increases your risk of infections, and there is some concern that long-term use of this drug might cause problems later in life for people who take it for many years. More study is needed.

Your doctor can help you determine if this drug might be beneficial for you or your child. Don't take the drug if you're pregnant.

Assessing stroke risk
Using a special ultrasound machine (transcranial), doctors can learn which children have a higher risk of stroke. This painless test, which uses sound waves to measure blood flow, can be used on children as young as 2 years. Regular blood transfusions can decrease stroke risk.

Vaccinations to prevent infections
Childhood vaccinations are important for preventing disease in all children. They're even more important for children with sickle cell anemia because their infections can be severe.

Your doctor will make sure your child receives all of the recommended childhood vaccinations. Vaccinations, such as the pneumococcal vaccine and the annual flu shot, are also important for adults with sickle cell anemia.

Blood transfusions
In a red blood cell transfusion, red blood cells are removed from a supply of donated blood, then given intravenously to a person with sickle cell anemia.

Blood transfusions increase the number of normal red blood cells in circulation, helping to relieve anemia. In children with sickle cell anemia at high risk of stroke, regular blood transfusions can decrease the risk. Transfusions can also be used to treat other complications of sickle cell anemia, or they can be given to prevent complications.

Blood transfusions carry some risk, including infection and excess iron buildup in your body. Because excess iron can damage your heart, liver and other organs, people who undergo regular transfusions might need treatment to reduce iron levels.

Bone marrow transplant
A bone marrow transplant, also called a stem cell transplant, involves replacing bone marrow affected by sickle cell anemia with healthy bone marrow from a donor. The procedure usually uses a matched donor, such as a sibling, who doesn't have sickle cell anemia. For many, donors aren't available. But stem cells from umbilical cord blood might be an option.

Because of the risks associated with a bone marrow transplant, the procedure is recommended only for people, usually children, who have significant symptoms and problems from sickle cell anemia.

If a donor is found, the person with sickle cell anemia receives radiation or chemotherapy to destroy or reduce his or her bone marrow stem cells. Healthy stem cells from the donor are injected intravenously into the bloodstream of the person with sickle cell anemia, where they migrate to the bone marrow and begin generating new blood cells.

The procedure requires a lengthy hospital stay. After the transplant, you'll receive drugs to help prevent rejection of the donated stem cells. Even so, your body might reject the transplant, leading to life-threatening complications.

Treating sickle cell complications
Doctors treat most complications of sickle cell anemia as they occur. Treatment might include antibiotics, vitamins, blood transfusions, pain-relieving medicines, other medications and possibly surgery, such as to correct vision problems or to remove a damaged spleen.

Experimental treatments
Scientists are studying new treatments for sickle cell anemia, including:

Gene therapy. Researchers are exploring whether inserting a normal gene into the bone marrow of people with sickle cell anemia will result in normal hemoglobin. Scientists are also exploring the possibility of turning off the defective gene while reactivating another gene responsible for the production of fetal hemoglobin a type of hemoglobin found in newborns that prevents sickle cells from forming.

Potential treatments using gene therapy are a long way off, however.

Nitric oxide. People with sickle cell anemia have low levels of nitric oxide in their blood. Nitric oxide is a gas that helps keep blood vessels open and reduces the stickiness of red blood cells. Treatment with inhaled nitric oxide might prevent sickle cells from clumping together. Studies on nitric oxide have shown little benefit so far.
Drugs to boost fetal hemoglobin production. Researchers are studying various drugs to devise a way to boost the production of fetal hemoglobin. This is a type of hemoglobin that stops sickle cells from forming.
Lifestyle and home remedies
Taking the following steps to stay healthy may help you avoid complications of sickle cell anemia:

Take folic acid supplements daily, and choose a healthy diet. Bone marrow needs folic acid and other vitamins to make new red blood cells. Your doctor might recommend a folic acid supplement. Choose a diet that focuses on a variety of colorful fruits and vegetables, as well as whole grains.
Drink plenty of water. Dehydration can increase your risk of a sickle cell crisis. Drink water throughout your day, aiming for about eight glasses a day. Increase the amount of water you drink if you exercise or spend time in a hot, dry climate.
Avoid temperature extremes. Exposure to extreme heat or cold can increase your risk of a sickle cell crisis.
Exercise regularly, but don't overdo it. Talk with your doctor about how much exercise is right for you.
Use over-the-counter (OTC) medications with caution. Use OTC pain medications, such as ibuprofen (Advil, Motrin IB, Children's Motrin, others) or naproxen sodium (Aleve) sparingly, if at all, because of the possible effect on your kidneys. Ask your doctor before taking OTC drugs.
Coping and support
If you or someone in your family has sickle cell anemia, you may want help with the stresses of this lifelong disease. Consider:

Finding someone to talk with. Sickle cell centers and clinics can provide information and counseling. Ask your doctor or the staff at a sickle cell center if there are support groups for families in your area. Talking with others who are facing the same challenges you are can be helpful.
Exploring ways to cope with the pain. Work with your doctor to find ways to control your pain. Pain medications can't always take all the pain away. Different techniques work for different people, but it might be worth trying heating pads, hot baths, massages or physical therapy.
Learning about sickle cell anemia to make informed decisions about care. If you have a child with sickle cell anemia, learn as much as you can about the disease. Ask questions during your child's appointments. Ask your health care team to recommend good sources of information.
Preparing for your appointment
Sickle cell anemia is usually diagnosed through genetic screening done when a baby is born. Those test results will likely be given to your family doctor or pediatrician. He or she will likely refer you to a doctor who specializes in blood disorders (hematologist) or a pediatric hematologist.

Here's information to help you get ready for your appointment.

What you can do
Make a list of:

Symptoms you've noticed, including any that seem unrelated to the reason for which you scheduled the appointment
Key personal information, including family medical history and whether anyone has sickle cell anemia or has a trait for it
Questions to ask your doctor
Bring a family member or friend along, if possible, to help you remember the information you're given.

For sickle cell anemia, questions to ask your doctor include:

What's the most likely cause of my child's symptoms?
Are there other possible causes?
What tests are needed?
What treatments are available and which do you recommend?
What side effects are common with these treatments?
Are there alternatives to the primary approach that you're suggesting?
What's my child's prognosis?
Are there dietary or activity restrictions?
Do you have brochures or other printed material that I can have? What websites do you recommend?
Don't hesitate to ask other questions.

What to expect from your doctor
Your doctor is likely to ask you questions, including:

When did you notice your child's symptoms?
Have they been continuous or occasional?
What, if anything, seems to improve symptoms?
What, if anything, seems to worsen them?

Sestamibi scanning is the preferred way in which to localize diseased parathyroid glands prior to an operation. Sestamibi is a small protein which is labeled with the radio-pharmaceutical technetium99. This very mild and safe radioactive agent is injected into the veins of a patient with hyperparathyroidism (parathyroid disease) and is absorbed by the overactive parathyroid gland. Since normal parathyroid glands are inactive when there is high calcium in the bloodstream, they do not take up the radioactive particles. When a gamma camera is placed over the patient's neck an accurate picture will show the overactive gland. The picture below shows this camera. The picture on the right is the type of picture that is obtained from this camera. It shows radioactivity in the one bad parathyroid. This picture is a close-up of a patient's upper chest, neck, and lower face (the eyes would be just above the top of the picture and the heart would be just below the lower edge of the picture). You can see that the only structure in this person's neck and upper chest (the area in which parathyroids live) which is radioactive is a large overactive left lower parathyroid. The other 3 parathyroids are responding appropriately to the high blood calcium level by "going to sleep" and not producing any parathyroid hormone. Since the 3 normal parathyroids are NOT producing any hormone, they do not absorb radioactivity and therefore do not show up on this scan. Only the overactive parathyroid gland shows up a very accurate test.

The Sestamibi scan will display the hyperactive gland which is causing hyperparathyroidism in about 90 percent (90% sensitivity) of all patients. If the Sestamibi does show the hyperactive gland it is almost always correct (98-100% specificity). It takes approximately two hours to perform the Sestamibi scan after it has been injected. Pictures of the neck and chest are usually taken immediately after the injection and again in 1.75 to 2.0 hours (shown above). Newer techniques allow for more complete two and three dimensional images to be obtained of a patient's neck. This technique is called SPECT scanning (Single Proton Emission Computerized Tomography) but it is usually not necessary.

Overview
Serum protein electrophoresis (SPEP) is a laboratory technique that's used to determine the levels of some types of proteins in a blood sample. There are a number of reasons why a doctor may order this test. SPEP is used to help diagnose and monitor a variety of different diseases or disorders that have abnormal proteins or protein levels. Electrophoresis is not usually used by itself to diagnose a disease. Instead, it's used along with other laboratory tests to provide more information to help with diagnosis.

Understanding serum protein electrophoresis
One of the best ways to get a better sense of the SPEP test is to look at each word in the name:

Serum
Serum is the liquid part of your blood. Blood appears to be a single substance to the naked eye. However, blood has several components. Both types of blood cells (red and white) and platelets are solids. When these are removed, a liquid is left behind. This is serum.

Protein
Proteins are substances made of small chemicals called amino acids. They have a number of roles:

They provide structure to the body.
They help transport nutrients.
They help the body fight off disease.
Too much or too little protein can cause problems. The five groups of proteins usually considered during an SPEP test are:

Albumin: This protein transports substances and plays a role in tissue growth and repair.
Alpha-1 globulins: The major alpha-1 globulin is called alpha-1-antitrypsin, which is produced by the lungs and liver and increases with inflammatory diseases.
Alpha-2 globulins: This class of protein has many functions in the body and is involved in inflammation.
Beta globulins: These proteins move substances, support immunity, and increase in number in multiple myeloma and conditions like high cholesterol and atherosclerosis.
Gamma globulins: These support the immune system and are increased in multiple myeloma, as well as some autoimmune conditions like rheumatoid arthritis and systemic lupus erythematosus.
Electrophoresis
Electrophoresis is a lab technique used to separate groups of proteins in blood serum. This allows them to be measured and analyzed individually. It involves exposing serum placed in a special type of gel to an electric current. This causes the different types of proteins to move and group together. The proteins create separate bands on the gel, which are then analyzed by the laboratory.

What the SPEP test is used for
Your doctor may recommend SPEP if you are experiencing symptoms of a condition affecting the proteins in your blood serum. These symptoms could include the following:

unexplained weight loss
bone pain or frequent fractures
fatigue
weakness
nausea
constipation
excessive thirst
back pain
Some of the conditions that could be causing these symptoms are:

cancer
thyroid problems
diabetes
anemia
liver diseases
malnutrition
certain autoimmune diseases
multiple sclerosis

The serum protein electrophoresis test
No preparation is needed for the test. When you arrive, a healthcare professional will simply use a needle to take a blood sample. Some people experience mild pain when the needle is inserted. There may be some slight bruising afterward.

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What do the test results mean?
The following table shows what most labs would consider normal results for SPEP testing. These values may vary slightly from facility to facility.

Type of Protein Amount of Protein (grams/deciliter)
albumin 3.8 5.0
alpha-1 globulin 0.1 0.3
alpha-2 globulin 0.6 1.0
beta globulin 0.7 1.4
gamma globulin 0.7 1.6

Sodium is an electrolyte present in all body fluids and is vital to normal body function, including nerve and muscle function. This test measures the level of sodium in the blood and/or urine.

Sodium, along with other electrolytes such as potassium, chloride, and bicarbonate (or total CO2), helps cells function normally and helps regulate the amount of fluid in the body. While sodium is present in all body fluids, it is found in the highest concentration in the blood and in the fluid outside of the body's cells. This extracellular sodium, as well as all body water, is regulated by the kidneys.

We get sodium in our diet, from table salt (sodium chloride or NaCl), and to some degree from most of the foods that we eat. Most people have an adequate intake of sodium. The body uses what it requires and the kidneys eliminate the rest in the urine. The body tries to keep the blood sodium within a very narrow concentration range. It does this by:

Producing hormones that can increase (natriuretic peptides) or decrease (aldosterone) the amount of sodium eliminated in urine
Producing a hormone that prevents water losses (antidiuretic hormone, ADH, sometimes called vasopressin)
Controlling thirst; even a 1% increase in blood sodium will make a person thirsty and cause that person to drink water, returning the sodium level to normal.
Abnormal blood sodium is usually due to some problem with one of these systems. When the level of sodium in the blood changes, the water content in the body also changes. These changes can be associated with too little fluid (dehydration) or with too much fluid (edema), often resulting in swelling in the legs.

A sodium blood test is used to detect abnormal concentrations of sodium, including low sodium (hyponatremia) and high sodium (hypernatremia). It is often used as part of an electrolyte panel or basic metabolic panel for a routine health checkup.

Sodium is an electrolyte present in all body fluids and is vital to normal body function, including nerve and muscle function. It helps cells function normally and helps regulate the amount of fluid in the body.

A blood sodium test may also be used to detect the cause and help monitor treatment in people with dehydration, excess fluid (edema), or with a variety of symptoms (e.g., weakness, confusion, thirst and/or dry mucous membranes). Blood sodium can be abnormal in many diseases. A health practitioner may order this test, along with other electrolytes, to identify an electrolyte imbalance or if there are symptoms of illness involving the brain, lungs, liver, heart, kidney, thyroid, or adrenal glands.

In people with a known electrolyte imbalance, a blood sodium test may be used to monitor the effectiveness of treatment or to monitor people taking medications that can affect sodium levels, such as diuretics.

Urine sodium levels may be tested in people who have abnormal blood sodium levels to help determine whether an imbalance is due to, for example, consuming too much sodium or losing too much sodium. Urine sodium testing is also used for people with abnormal kidney tests to help the healthcare practitioner determine the cause of kidney disease and to help guide treatment.

Sodium testing is a part of the routine lab evaluation of most people as part of an electrolyte panel or a basic metabolic panel. These may be ordered during an annual physical or when someone has non-specific health complaints.

A blood sodium test may be ordered when a person has symptoms of low sodium, such as weakness, confusion, and lethargy. If the sodium level falls quickly, the person may feel weak and fatigued; in severe cases, the person may experience confusion or even fall into a coma. When the sodium level falls slowly, however, there may be no symptoms. That is why sodium levels are often checked even if someone has no symptoms.

Sodium blood testing may be ordered when a person has symptoms of high sodium, such as thirst, dry mucous membranes (e.g., mouth, eyes), less frequent urination, muscle twitching, and/or agitation. If the sodium level rises to extremely high concentrations, symptoms can include restlessness, acting irrationally, and coma or convulsions.

Electrolytes may be measured when monitoring treatment involving intravenous (IV) fluids or when there is a possibility of developing dehydration. Electrolyte panels and basic metabolic panels are also commonly ordered on a regular basis when monitoring treatment of certain conditions, including high blood pressure, heart failure, and liver and kidney disease.

A urine sodium test may be ordered when a blood sodium test result is abnormal to help determine the cause of the imbalance or to monitor treatment.

A low level of blood sodium (hyponatremia) may be due to:

Losing too much sodium, most commonly from conditions such as diarrhea, vomiting, excessive sweating, use of diuretics, kidney disease or low levels of cortisol, aldosterone and sex hormones (Addison disease)
Drinking too much water as might occur during exercise
Excess fluid accumulation in the body (edema) caused by heart failure, cirrhosis, and kidney diseases that cause protein loss (nephrotic syndrome) or malnutrition. In a number of diseases, particularly those involving the brain and the lungs, many kinds of cancer, and with some drugs, the body makes too much anti-diuretic hormone (ADH), causing a person to keep too much water in the body.
Low blood sodium is rarely due to decreased sodium intake (deficient dietary intake or deficient sodium in IV fluids).

A high blood sodium level (hypernatremia) is almost always caused by losing too much water (dehydration) without drinking enough water. In rare cases, it may be due to increased salt intake without enough water, Cushing syndrome, or a condition caused by too little ADH called diabetes insipidus.

Sodium urine concentrations must be evaluated in association with blood levels. The body normally elimiates excess sodium, so the concentration in the urine may be elevated because it is elevated in the blood. It may also be elevated in the urine when the body is losing too much sodium; in this case, the blood level would be normal to low. If blood sodium levels are low due to insufficient intake, then urine concentrations will also be low.

Decreased urinary sodium levels may indicate dehydration, congestive heart failure, liver disease, or nephrotic syndrome.
Increased urinary sodium levels may indicate diuretic use or Addison disease.
Sodium levels are often evaluated in relation to other electrolytes and can be used to calculate a quantity termed anion gap. The anion gap is useful in identifying the presence of unknown substances such as toxins in the blood.

What is being tested?
Phosphorus is a mineral that combines with other substances to form organic and inorganic phosphate compounds. The terms phosphorus and phosphate are often used interchangeably when talking about testing, but it is the amount of inorganic phosphate in the blood that is measured with a serum phosphorus/phosphate test.

Phosphates are vital for energy production, muscle and nerve function, and bone growth. They also play an important role as a buffer, helping to maintain the body's acid-base balance.

We get the phosphorus we need through the foods we eat. It is found in many foods and is readily absorbed by the digestive tract. Most of the body's phosphates combine with calcium to help form bones and teeth. Smaller amounts are found in muscle and nerve tissue. The rest is found within cells throughout the body, where they are mainly used to store energy.

Normally, only about 1% of total body phosphates are present in the blood. A wide variety of foods, such as beans, peas and nuts, cereals, dairy products, eggs, beef, chicken, and fish, contain significant amounts of phosphorus. The body maintains phosphorus/phosphate levels in the blood by regulating how much it absorbs from the intestines and how much it excretes via the kidneys. Phosphate levels are also affected by the interaction of parathyroid hormone (PTH), calcium, and vitamin D.

Phosphorus deficiencies (hypophosphatemia) may be seen with malnutrition, malabsorption, acid-base imbalances, increased blood calcium, and with disorders that affect kidney function. Phosphorus excesses (hyperphosphatemia) may be seen with increased intake of the mineral, low blood calcium, and with kidney dysfunction.

Someone with a mild to moderate phosphorus deficiency often does not have any symptoms. With a severe phosphorus deficiency, symptoms may include muscle weakness and confusion. An extreme excess of phosphorus may cause symptoms that are similar to those seen with low calcium, including muscle cramps, confusion, and even seizures

Phosphorus tests are most often ordered along with other tests, such as those for calcium, parathyroid hormone (PTH), and/or vitamin D, to help diagnose and/or monitor treatment of various conditions that cause calcium and phosphorus imbalances.

While phosphorus tests are most commonly performed on blood samples, phosphorus is sometimes measured in urine samples to monitor its elimination by the kidneys.

Since mildly abnormal phosphorus levels usually cause no symptoms, phosphorus testing is typically performed in follow up to an abnormal calcium test and/or when symptoms of abnormal calcium such as fatigue, muscle weakness, cramping, or bone problems are present.

Phosphorus testing may also be ordered along with other tests when symptoms suggest kidney and gastrointestinal disorders.

When conditions causing abnormal phosphorus and/or calcium levels are found, testing for both may be ordered at regular intervals to monitor treatment effectiveness.

When someone has diabetes or signs of an acid-base imbalance, a healthcare practitioner may sometimes monitor phosphorus levels.