How to diagnose and treat sickle cell anemia?
Sickle cell anemia can be diagnosed through a blood test. The blood test check for hemoglobin S – the defective form of hemoglobin make you get sickle cell anemia. Treatments of the disease include antibiotics, blood transfusion and bone marrow transplant, as well as other treatments for complications resulting from sickle cell anemia.
Can you detect sickle cell anemia before birth?
Can sickle cell anemia be detected before birth? Yes. Prenatal testing can detect sickle cell diseases. As early as the first trimester, doctors can take a sample of placental tissue (chorionic villus sampling, or CVS) to detect whether a baby has the genes that would lead to sickle cell anemia or sickle cell trait.
Can an adult be diagnosed with sickle cell anemia?
Sickle cell disease and sickle cell trait are both diagnosed with a simple blood test. In 2006 it became mandatory to test all newborns for sickle cell in the United States. But older children and adults can be tested, too. If you were born before 2006 or if you don’t know if you were tested, you can ask your doctor for a blood test.
Is sickle cell anemia a fatal disease?
Sickle cell disease is the name for a group of inherited health conditions that affect the red blood cells. The most serious type is called sickle cell anaemia. ... It can lead to health problems like strokes, serious infections and lung problems, which can occasionally be fatal. Overall, the life expectancy for someone with sickle cell disease ...
What types of tests are used to diagnose sickle cell disease?
A blood test can check for the form of hemoglobin that underlies sickle cell anemia. In the United States, this blood test is part of routine newborn screening. But older children and adults can be tested, too. In adults, a blood sample is drawn from a vein in the arm.
What tests are done for sickle cell anemia?
The best way to check for sickle cell trait or sickle cell disease is to look at the blood using a method called high-performance liquid chromatography (HPLC). This test identifies which type of hemoglobin is present. To confirm the results of HPLC, a genetic test may be done.
Can a CBC detect sickle cell?
Sickle cell tests may also be ordered when a person has abnormal results on a complete blood count (CBC) and blood smear and/or has signs and symptoms that suggest the presence of sickle cell anemia.
What labs are elevated in sickle cell crisis?
Sickle cell crisis patient evaluation warrants routine laboratory examination such as CBC with differential, a reticulocyte count, and a complete metabolic panel including liver function tests.
What is a sickling test?
The sickle cell test looks for the abnormal hemoglobin in the blood that causes the disorder sickle cell disease. These crescent or sickle-shaped red blood cells (RBCs) are present with Sickle cell anemia, and stand out clearly against the normal round RBCs.
Why is Hb electrophoresis test done?
Hemoglobin electrophoresis measures hemoglobin levels and looks for abnormal types of hemoglobin. It's most often used to help diagnose anemia, sickle cell disease, and other hemoglobin disorders.
What is being tested?
Sickle cell anemia is an inherited disorder that leads to the production of an abnormal type of hemoglobin called hemoglobin S (Hb S or Hgb S).
Common Questions
Sickle cell tests may be used to screen for or help diagnose sickle cell anemia (also called sickle cell disease) or to identify individuals who are genetic carriers and have sickle cell trait. Testing may be used for:
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What is a sickle cell test?
A sickle cell test is a simple blood test used to determine if you have sickle cell disease (SCD) or sickle cell trait. People with SCD have red blood cells (RBCs) that are abnormally shaped. Sickle cells are shaped like a crescent moon. Normal RBCs look like doughnuts. The sickle cell test is part of routine screening performed on a baby ...
What happens if a sickle cell test shows you have SCD?
If you receive a diagnosis of SCD, your doctor will work with you to develop a treatment plan that works for you. Last medically reviewed on July 13, 2018.
What happens if you have two abnormal hemoglobin genes?
If the test shows you have two abnormal hemoglobin genes, your doctor will likely make an SCD diagnosis. If the test shows you have only one of these abnormal genes and no symptoms, your doctor will likely make the diagnosis of sickle cell trait.
What does a negative sickle cell test mean?
A sickle cell test looks only for the presence of hemoglobin S, which causes SCD. A negative test is normal. It means your hemoglobin is normal. A positive test result may mean you have sickle cell trait or SCD. If the test is positive, your doctor will probably order a second test called hemoglobin electrophoresis.
How long does it take to get sickle cell results?
How do you prepare for a sickle cell test? No preparation is required for the sickle cell test. However, receiving a sickle cell test within 90 days after a blood transfusion may lead to inaccurate test results. Transfusion can reduce the amount of hemoglobin S — the protein that causes SCD — in the blood.
Why is it important to test for SCD early?
This is because children with SCD may be more vulnerable to serious infections within weeks of birth. Testing early helps ensure infants with SCD get the proper treatment to protect their health.
What is the abnormal form of hemoglobin?
The lab tech who examines your blood sample will be looking for an abnormal form of hemoglobin called hemoglobin S. Regular hemoglobin is a protein carried by RBCs. It picks up oxygen in the lungs and delivers it to other tissues and organs throughout your body.
What is the test for sickle cell?
The test analyzes blood from a heel prick to determine what type of hemoglobin protein the baby has. 1-3.
What does routine healthcare look like for adults with sickle cell disease?
Complications usually get worse as people age into adulthood. This includes: 1
How long does it take for a newborn to get tested for SCD?
Newborns who test positive for hemoglobin S (HbS) are tested again after 2 months to get a more accurate diagnosis of their specific SCD type. The family can then receive education before symptoms appear and begin penicillin and immunizations as needed. 4.
Why do we need a newborn screening?
Universal newborn screening allows doctors and families to start this before children show symptoms. Adults with SCD benefit from routine health exams to treat complications early. Counseling also helps to support adults in completing education, finding employment, family planning, and maintaining mental health.
What are some laboratory tests that measure the number of blood cells in your body?
Some common laboratory tests include: 4,5. Complete blood count (measures the number of blood cells in your blood) Body measurements , including height and weight. Blood pressure. Blood and urine tests for kidney function. Blood tests for liver function.
Can sickle cell test be used to identify infants?
Screening can also identify infants who are carriers of SCD, called sickle cell trait. This may not be immediately helpful to infants with sickle cell trait because they usually do not show symptoms. However, the infant’s parents should be offered education and testing because it could affect future reproductive decisions. 2,5
Can a child have sickle cell?
Sometimes, adults discover they have sickle cell trait when they have a child with abnormal hemoglobin. Genetic counselors can provide education and support concerning the risk for having children with SCD. Information that counselors provide includes: 5
What Is a Sickle Cell Test?
A sickle cell test is a blood test that checks for abnormal red blood cells called sickle cells. These can cause sickle cell disease or sickle cell trait.
What is the name of the blood test that looks at the shape and number of your red and white blood cells?
Peripheral smear. This is a blood test that looks at the shape and number of your red and white blood cells. Some of your blood is put on a slide and examined by computer or under a microscope to identify sickle-shaped cells. This test is usually done for children and adults along with a CBC.
What is the test for turbidity?
This is a routine test for newborn screening but is also done for children and adults. Sickle turbidity test. Also called hemoglobin solubility, this is an inexpensive test where blood is added to a solution. If hemoglobin S is present, the test turns cloudy, or turbid, as it is exposed to the solution.
What is hemoglobin electrophoresis?
Hemoglobin electrophoresis. This is a blood test that looks at the types of hemoglobin in your blood. A current is applied to the blood sample, which separates blood into bands of hemoglobin. There are lots of different types of hemoglobin, but hemoglobin S and some others are associated with sickle cell disease.
How long does it take for amniotic fluid to be tested?
Around 14 to 16 weeks, you can have your amniotic fluid tested. This test is called an amniocentesis and involves placing a needle into your womb to draw out fluid.. Bone marrow tests. In rare cases, your doctor might take some of your bone marrow with a needle.
When can you get your amniotic test done?
This test involves taking a small amount of tissue from your placenta. . Around 14 to 16 weeks, you can have your amniotic ...
Do older children need sickle cell tests?
Sickle cell tests have become routine in newborn screenings, but older children and adults may need to be tested as well. Read on to see if you or a loved one might benefit from being tested for sickle cell.
Diagnosis and Testing
If a pregnancy is thought to be at risk for sickle cell anemia or other sickle cell diseases, it is possible to have a test to determine if the baby will have the disease or not. It is first important, however, to know whether both parents have sickle cell or another beta-globin trait.
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What is sickle cell anemia?
Sickle cell anemia is an inherited disorder that leads to the production of an abnormal type of hemoglobin called hemoglobin S (Hb S or Hgb S). Sickle cell tests determine the presence and relative amount of hemoglobin S in a blood sample or detect mutations in the genes that produce hemoglobin to help diagnose sickle cell anemia and/or identify ...
When is sickle cell screening done?
Testing may be done when those who were born before newborn screening was mandated want to know if they have sickle cell disease or are carrying the sickle cell trait, especially if they are in a high-risk group.
Why do sickle cells become anemic?
A person with sickle cell disease (homozygous for Hb S) can become severely anemic because the body cannot produce RBCs as fast as they are destroyed. The affected person can suffer painful episodes and a variety of complications when sickled cells become lodged in and obstruct small blood vessels (vaso-occlusion).
How many babies will be sickle cell anemia in 2050?
A 2013 study noted that the rates of sickle cell anemia are increasing worldwide and are projected to affect more than 400,000 newborns by 2050, with India and sub-Saharan Africa showing the sharpest increases.
What is general screening?
General screening—to identify sickle cell trait in asymptomatic parents who have an affected child or in other family members of an individual who has sickle cell trait or sickle cell disease. Screening may also be done for those who were not screened at birth because universal newborn testing was not yet implemented.
How often do African Americans get sickle cell?
In African Americans, sickle cell disease occurs in one out of every 365 births. Carrier screening may be offered when a woman is pregnant or considering pregnancy. If a woman is found to be a carrier for sickle cell, testing should be offered to her partner.
How to test for hemoglobin mutations?
Genetic testing (DNA analysis)—this tests for mutations in the genes that produce hemoglobin components. It can determine whether someone has one or two gene copies (alleles) of the Hb S mutation or has two different mutations in hemoglobin genes (e.g., Hb S and Hb C). Genetic testing can be used for carrier testing and for diagnosis. For pregnant women, amniotic fluid may be tested at 14 to 16 weeks to provide a diagnosis. It can also be performed earlier with chorionic villus sampling. Sometimes, testing may be done by analyzing cell-free fetal DNA in the mother’s blood. (To learn more about this type of test, see the article on Cell-Free Fetal DNA .)
What other blood work do people with sickle cell disease get?
Other blood tests can give doctors information about the status of the disease. For example, some additional tests that doctors commonly perform include: 2-3,14-15
Why do you type and cross with red blood cell antigen testing?
Type and cross with red blood cell antigen testing in preparation for future blood transfusions (to assure that your body will accept the donor red blood cells).
What is a complete blood count?
A complete blood count (CBC) is usually performed at every doctor’s visit for people with SCD. It gives doctors information about all 3 types of blood cells: red blood cells, platelets, and white blood cells. SCD mainly affects red blood cells, but can sometimes modify platelets and white blood cells. Some SCD medications also affect blood cells. 4,5
What blood tests are done to test liver function?
Liver problems are also common for people with SCD. Sickle cells can block blood flow to the liver and prevent it from getting rid of waste. Chronic blood transfusions also increase the risk for liver damage. 11
Why do people with SCD have more reticulocytes?
People with SCD have more reticulocytes in the blood because the body is rapidly making more red blood cells to offset anemia and releasing the reticulocytes early. People with SCD may have a reticulocyte count of 2 to 3 percent or more. 5.
What is the normal hemoglobin level for SCD?
A normal hemoglobin level is around 12 to 15 g/dL. People with SCD have hemoglobin levels of 6 to 11 g/dL. 4,5. People with SCD usually have higher levels of white blood cells, especially neutrophils. These are a type of white blood cells that fight bacterial infections. Major increases in white blood cell count may indicate infections.
What is a routine blood test?
Some common routine blood tests are complete blood count (CBC) and reticulocyte count, which tell doctors about different types of blood cells. Blood tests for kidney and liver function are also common. These tests are often performed together on a comprehensive metabolic panel of tests that also includes measurements of electrolytes, proteins, ...
What is the most common way to diagnose sickle cell disease?
Newborn screening . Newborn screening is the most common way that people are diagnosed with sickle cell disease or sickle cell trait. The test uses blood from a heel prick to identify abnormal types of hemoglobin proteins. 5. Newborns with sickle cell anemia (HbSS) have mostly fetal hemoglobin (HbF) with a small amount of sickle hemoglobin (HbS).
When is sickle cell disease diagnosed?
Most people are diagnosed at birth during routine newborn screening. Upon diagnosis with SCT, the family can get education and counseling concerning health and decisions about reproduction.
How do I know if my future child is at risk of having sickle cell disease?
If you have sickle cell trait, your child may inherit the sickle hemoglobin gene and have sickle cell trait. If you and your partner both have sickle cell trait, your child may inherit 2 genes for sickle hemoglobin and have sickle cell disease. 9
How many babies have sickle cell?
About 1.5 percent of babies born in the United States have sickle cell trait. In other words, about 1 out of every 65 babies is diagnosed with SCT. 1,2. The rate of SCT varies for different races and ethnicities, but people of every racial/ethnic population have SCT. For example, SCT is diagnosed in about: 1,2.
Can you forget a sickle cell diagnosis?
It is also common for people with sickle cell trait to forget their diagnosis because they never showed symptoms. 6,8. You may then be diagnosed with sickle cell trait as an adult when a family member is diagnosed with sickle cell trait or sickle cell disease.
Treatment
- Management of sickle cell anemia is usually aimed at avoiding pain episodes, relieving symptoms and preventing complications. Treatments might include medications and blood transfusions. For some children and teenagers, a stem cell transplant might cure the disease.
Lifestyle and Home Remedies
- Taking the following steps to stay healthy might help you avoid complications of sickle cell anemia: 1. Take folic acid supplements daily and choose a healthy diet.Bone marrow needs folic acid and other vitamins to make new red blood cells. Ask your doctor about a folic acid supplement and other vitamins. Eat a variety of colorful fruits and vegetables, as well as whole g…
Coping and Support
- If you or someone in your family has sickle cell anemia, you might consider the following to help you cope: 1. Finding someone to talk with.Living with a chronic illness is stressful. Consider consulting a mental health professional, such as a psychologist, counselor or social worker, to help you cope. 2. Join a support group.Ask your health care provider about support groups for fa…
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.