When Is The Best Time To Diagnose Sickle Cell Disease
Sickle cell conditions can be accurately diagnosed at any age. However, the newborn period is the best time. Newborn diagnosis enables healthcare providers to start preventive treatment and family health education before the start of symptoms.
Forty-nine U.S. states, the District of Columbia, Puerto Rico and the Virgin Islands currently screen all newborns for sickle cell disease through blood tests. These tests use blood from the same samples taken for other routine newborn screening tests and can determine if the child has the disease itself or only the trait. It is also possible to identify sickle cell disease before birth by getting a sample of amniotic fluid or tissue taken from the placenta this test can be done as early as the first few months of pregnancy.
Treating And Preventing Sickle Cell Crises
Sickle cell crises can usually be managed at home. The following steps are recommended for adults or children experiencing a sickle cell crisis:
- over the counter painkillers like paracetamol and ibuprofen can help although aspirin should not be given to anyone under 16 and if needed, your GP may prescribe stronger painkillers
- heating pads or warm towels can be placed on the area and massaged to ease the pain pharmacies usually sell heating pads you can use for this
- drink plenty staying hydrated will help
- relaxing distractions like reading, videos, and computer games are a good way to distract your mind, or your child’s mind, from the pain
If none of the above measures help, or the pain is very severe, phone your GP. You or your child should go to the local accident and emergency if it’s not possible to contact your GP. It may be necessary for you or your child to spend a few days in hospital being treated with stronger pain relief.
The best way to prevent a sickle cell crisis is by being aware of potential triggers and avoiding them.
Your care team may recommend a medication called hydroxycarbamide if you keep experiencing sickle cell crises. This is a capsule that is taken once a day. It works by reducing how many other types of blood cell, like white blood cells and platelets there are in the body.
This means that you’ll need regular blood tests to make sure you’re healthy.
Signs And Symptoms Of Sickle Cell Disease
Anemia is the most common feature of sickle cell disease. Anemia may cause fatigue, paleness, yellowing of the skin and eyes , or shortness of breath.
Pain is the most common symptom of sickle cell disease. Some people have few or no severe pain episodes a year while others have 15 or more. Pain may last a few hours to a few days, and, in some cases, it can last for weeks. Some people have chronic, almost daily pain.
The pain occurs in organs or joints and results from tissue damage caused when sickle cells block blood flow. Mild pain episodes may be treated with over-the-counter pain medications such as acetaminophen and ibuprofen. Pain that is severe may require treatment in the hospital with strong pain medicines given intravenously .
Complications of sickle cell disease may be acute or or chronic.
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Tests For Diagnosing And Monitoring For Sickle Cell Disease
At the UPMC Adult Sickle Cell Disease Program, we will obtain a complete medical history and conduct a physical exam. We may also discuss your family history and review newborn screening results.
Tests may include:
- Sickle cell test Determines if you have the abnormal hemoglobin that causes sickle cell trait and sickle cell disease.
- Hemoglobinopathy test Checks for hemoglobin abnormalities .
- Hemoglobin electrophoresis Determines the specific type of abnormal hemoglobin present and at what levels it exists in the blood stream. Abnormal test results may indicate sickle cell disease or another hemoglobinopathy.
- Echocardiogram Screens for pulmonary hypertension.
When To Call 911
- Is breathing slowly or stops breathing.
- Is unresponsive and cannot talk to you.
- Cannot wake after a nap.
- Has sudden weakness, loss of feeling, or cannot move a body part.
If your child gets sick during the day, call the sickle cell nurses at 722-8914 Monday through Friday, 8 a.m. to 4:30 p.m.
- If they are not available, please call the Sickle Cell Clinic at 722-3250.
- On evenings, weekends, and holidays, call 722-2000 and ask for the hematologist on call.
HH-I-55 Revised 6/22 Copyright 1997 Nationwide Childrens Hospital
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Can Healthcare Providers Cure Sickle Cell Anemia
Right now, allogenic stem cell transplantation is the only way healthcare providers can cure sickle cell anemia and other forms of sickle cell disease. Healthcare providers typically recommend transplantation for people who have severe complications such as stroke, acute chest syndrome or recurring VOC/acute pain crises.
What Is Sickle Cell Disease And How Does It Describe Its Effects At A Protein Cellular And Organismal Level
Sickle cell disease is a blood ailment that is hereditary. It is distinguished by faulty hemoglobin. This is the protein found in red blood cells that transports oxygen to the body’s tissues. As a result, sickle cell disease disrupts the supply of oxygen to the tissues. These problems often lead to pain, fever, and impaired function of various organs such as the lungs, kidneys, and brain.
At the protein cellular level, sickle cell disease causes abnormal shapes and functions of red blood cells. These deformed cells are called “sickles.” They lack flexibility and can’t pass through small capillaries. This limits their ability to transport oxygen to parts of the body where it is needed most. Sickle cell disease also affects different organs at different levels. For example, sickled red blood cells tend to stick to vascular walls after they have passed through narrow vessels. This may cause problems in the lungs, where many red blood cells need to pass through very small spaces to reach the airways.
Sickle cell disease has been around for centuries. However, it was not recognized as a medical condition until 1939 when Dr. William Black discovered an association between symptoms and tests showing reduced numbers of red blood cells and white blood cells and increased numbers of platelets . He named this new disease “sickle cell anemia.”
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How Are Sickle Cell Anemia Red Blood Cells Shaped
Sickle cell anemia is a genetically inherited form of anemia characterized by irregularly shaped red blood cells that do not function properly. Instead of having a round shape like healthy red blood cells, sickled red blood cells are rigid and shaped like a crescent moon.
How is the Rh blood group classified in humans?
The Rh blood group is classified according to the presence or absence of a second erythrocyte antigen identified as Rh.
Types Of Sickle Cell Disease
There are several types of sickle cell disease. The most common are:
- Hemoglobin SS Disease, Hemoglobin SC Disease
- Sickle Beta-Plus Thalassemia
- Sickle Beta-Zero Thalassemia.
The majority of individuals with sickle cell disease have hemoglobin S, but some make a different type of abnormal hemoglobin like hemoglobin C, hemoglobin D, or hemoglobin E. Also, some individuals can have sickle cell disease because of co-inheritance of beta thalassemia. It is important to speak to your physician to understand what type you have.
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What Causes Sickle Cell Disease
Sickle cell is an inherited disease caused by a defect in a gene.
- A person will be born with sickle cell disease only if two genes are inheritedone from the mother and one from the father.
- A person who inherits just one gene is healthy and said to be a “carrier” of the disease. A carrier has an increased chance of having a child with sickle cell disease if he or she has a child with another carrier.
For parents who are each carriers of a sickle cell gene, there is a 1 in 4, or a 25 % chance of having a child with sickle cell disease.
How Is Sickle Cell Anemia Inherited
Sickle cell anemia is caused by a mutation in the HBB gene responsible for producing the beta-subunit of hemoglobin, inherited from one or both parents. There can be multiple mutations in the HBB gene, which, when inherited, can cause a different severity of the disease.
The normal gene is called hemoglobin A gene. The abnormal sickle cell gene is called the hemoglobin S gene.
In order to be born with the most severe form of sickle cell anemia, two copies of the abnormal HBB hemoglobin S gene must be inherited . If you inherit one copy of hemoglobin S and one of another type of defective hemoglobin, you may also show signs of sickle cell anemia.
This inheritance pattern is called autosomal recessive. “Autosomal” means that the gene is not on the X or Y chromosomes, so all sexes have an equal chance of inheriting it. “Recessive” means the person has two copies of the defective gene in order to display the condition.
If only one copy of the hemoglobin S gene is inherited, and the person inherits a normal hemoglobin A gene from the other parent, this individual has what’s called sickle cell trait. People with sickle cell trait usually don’t develop the symptoms of sickle cell anemia. However, they will be able to pass the hemoglobin S gene to their children.
You can inherit sickle cell trait if one of your parents has sickle cell anemia or has sickle cell trait.
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Folic Acid And Penicillin
From birth to five years of age, penicillin daily, due to the immature immune system that makes them more prone to early childhood illnesses, is recommended. Dietary supplementation of folic acid had been previously recommended by the WHO. A 2016 Cochrane review of its use found “the effect of supplementation on anaemia and any symptoms of anaemia remains unclear” due to a lack of medical evidence.
How Are People Diagnosed With Sickle
In the United States, all newborns are tested for SCD shortly after birth as part of the newborn screening program. If the results are positive for SCD, the childs pediatrician or a local sickle cell center is informed of the results so the patient can be seen in a sickle cell clinic. In countries that do not perform newborn screening testing, people are often diagnosed with SCD as children when they start to experience symptoms.
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What Morphology Changes Are Seen In Sickle Cell Anemia
Image by: laboratoryinfo
The unique morphology of sickle cells is due to hemoglobin polymerization at low oxygen saturation of the blood, which distorts the disk-like shape of a normal erythrocyte into an elongated, nonsymmetrical shape.
The morphology of red blood cells in the peripheral blood of adults with sickle cell anemia was studied to see if changes occurred during painful crises. These cells were classified into four groups based on their shape: normocytes, macrocytes, target cells, and cells with the shape of irreversibly sickled cells. Changes in red blood cell destruction that occur during pain crises may be more severe than previously thought. From the Figueiredo MS program: Zago MA, Fabry ME, Lawrence C, and Nagel RL. The blood of sickle cell anemia patients is separated from their own irreversibly sickled cells . Cameron, Zucker, R, and Zucker R have three names. Immunology and Microbiology This article was published in the February 15th issue of The Journal of Applied Linguistics. Gorey A., Gupta S., Sharma N. Chen GCK., and Vasudevan S. are all members of the
Who Is A Sickle Cell Patient
People with sickle cell disease have defective hemoglobin in their red blood cells, known as hemoglobin S or sickle hemoglobin. Hemoglobin is a protein found in red blood cells that transports oxygen across the body. Sickle cell disease patients inherit two defective hemoglobin genes, one from each father. This causes their red blood cells to become “sickled” or curved, blocking blood vessels and causing pain, infections, and organ damage.
Many factors may cause new symptoms or illness after a sickle cell patient has been discharged from the hospital. These include family history of early death, related diseases such as malaria, physical activity, stress, other medical conditions such as AIDS, pregnancy, nutrition, and drug use. Patients should tell their doctor about any recent changes in their lifestyle or diet, because these may require special attention during follow-up visits.
Sickle cell disease is an inherited blood disorder that affects approximately 1 in 300 people in the United States. It is more common in individuals of African American descent however, people of all races can be affected. The only cure for sickle cell disease is a bone marrow transplant from a donor who is a perfect genetic match for the patient. Because of the risk of dying before a donor is found, alternative treatments are being studied in clinical trials.
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Carriers Of Sickle Cell
A carrier of sickle cell is someone who carries the gene that causes sickle cell disease but does not have sickle cell disease themselves. It’s also known as having the sickle cell trait.
People with the sickle cell trait will not develop sickle cell disease, but are at risk of having a child with it if their partner is also a carrier.
You can request a blood test to check if you carry the sickle cell trait from your GP surgery or the nearest sickle cell and thalassaemia centre.
Learn More About Sickle Cell Disease
Sickle cell disease is a group of inherited red blood cell disorders. In SCD, the red blood cells become hard and sticky and look like a C-shaped farm tool called a sickle. People with SCD can live full lives and enjoy most of the activities that other people do. If you have SCD, its important to learn how to stay as healthy as possible.
Health guidance materials based on the American Society of Hematologys Clinical Practice Guidelines on Sickle Cell Disease. These materials include common complications of sickle cell disease and steps to take for better health.
Sickle Cell Disease: When to TransfuseLearn about indications for blood transfusion in patients with sickle cell disease, the complications associated with these transfusions, and how you can help reduce the risk for these complications in your patients.
Bleeding and Clotting DisordersThe purpose of this series is to provide evidence-based information on new research, interventions, emerging issues of interest in blood disorders, as well as innovative approaches in collaborations and partnerships. We invite you to join us in this series.
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How Does Sickle Cell Disease Affect People
Each person with sickle cell disease has a unique experience with health problems. The most common problems are:
- A pain crisis. C-shaped red blood cells are stiff and sticky. They cause all kinds of blood cells to collect in clumps. The clumps can clog small blood vessels, so blood cant flow easily to carry oxygen to the body. The person feels pain where they dont get enough oxygen. It’s called a pain crisis or a vaso-occlusive crisis. Things like dehydration, being too cold, or being stressed can trigger a pain crisis.
- Anemia. Sickle-shaped cells break down faster than normal red blood cells. There may be too few red blood cells around to do their job. This is called anemia. A person with anemia feels tired and has less energy.
Sickle cell blockages can also cause damage to organs, like the eyes, bones, or kidneys. If a blockage hurts the lungs or the brain, it can be serious. A person needs to get to the hospital right away. Fortunately, treatments are available that can help prevent problems from sickle cell disease.
Sickle Cell Trait Symptoms
There is no one definitive answer to this question. However, some potential sickle cell trait symptoms may include: fatigue, joint pain, shortness of breath, and/or chest pain. These symptoms may be exacerbated by dehydration or exposure to extremely cold temperatures. People with sickle cell trait may also be at increased risk for developing certain infections.
A genetic disorder known as stdT, or std, causes red blood cells to become abnormal. According to the American Society of Hematology, it affects between one and three million Americans. SCT, unlike sickle cell disease, does not usually cause symptoms. If a patient has SCT, they are unlikely to develop sickle-shaped cells due to their normal hemoglobin. It has been demonstrated that having a trait that protects against malaria can lead to increased sickle cell carrier rates in areas where the disease is prevalent. According to the World Health Organization, approximately 75% of SCD cases are in Sub-Saharan Africa. Although SCT is a fairly common condition, it can be harmful under certain conditions.
Athletes with this condition must take precautions while performing. African Americans, particularly those with sickle cell trait, are more likely to develop it. It usually presents no problems if the person has any severe physical problems. Furthermore, as a result, you should schedule a test and be monitored for the condition, and you should consult with your doctor about this.
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Testing And Diagnosis Of Sickle Cell Disease
There are several tests suitable for determining what type of hemoglobin is made by a person’s red blood cells. These include:
- Hemoglobin electrophoresis
- Isoelectric focusing
These tests can determine whether a person has a type of sickle cell disease or sickle cell trait.
DNA analysis is used to determine changes in the genes for making hemoglobin. This test indirectly predicts the type of hemoglobin made in the red cells.
Tests that are not suitable for determining sickle cell disease or sickle cell trait include:
- Solubility tests
A “positive” result from these tests simply indicates the presence of hemoglobin S in a person’s blood this occurs in both sickle cell trait and all types of sickle cell disease.
Other tests that are not useful by themselves for diagnosing sickle cell conditions include:
- Blood count. This test may detect anemia, but there are many other causes of anemia in infants and others with mild types of sickle cell disease, and there may be little or no anemia.
- Blood smear. Sickled cells can be easily seen on a blood smear examined under a microscope. However, even in some people with severe sickle cell disease and particularly in young children and in others with milder types of sickle cell disease, there may be no sickled cells on the regular blood smears.