How Often Does Sickle Cell Occur – By Megan Rive | Medically reviewed by Dr. Lionel Lubitz MBBS, FRACP, MRCP, DCH, Consultant General Pediatrician and Associate Professor |
What is sickle cell disease? Sickle cell disease is a genetic blood disorder that is passed down through families. Both parents must carry the sickle cell gene for their baby to have it.
How Often Does Sickle Cell Occur
Sickle cell disease is a very rare condition in Australia. It is most common among people of African, Caribbean, Eastern Mediterranean, Indian or Middle Eastern descent (CGE 2015, NHS 2016a, Tidy 2015b).
What Is Sickling
Sickle cell disease sometimes causes the body to make abnormal hemoglobin. Hemoglobin is an iron-rich protein in red blood cells that carries oxygen to all parts of the body.
The hemoglobin in normal red blood cells makes them soft, round and flexible, and can easily move around the body.
Sometimes when people with sickle cell disease produce abnormal hemoglobin, the red blood cells become hard, sticky, and sickle-shaped (like a crescent moon). These sickle cells can get stuck in the blood vessels, blocking the flow of blood and causing pain (NHS 2016, Tidy 2015a).
Sickle cells can also get stuck in the spleen. The spleen is an organ that filters the blood for infections. This means babies with sickle cell disease are more prone to illness.
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Sickle cells also die faster than normal red blood cells, which can make your baby anemic (NHS 2016a, Tidy 2015a). Anemia is the medical term for a lower number of red blood cells. How can my baby get sickle cell disease? For your baby to have it, both you and her father must carry the abnormal hemoglobin gene responsible for sickle cell disease (Meremikwu 2009, NHS 2016a, Tidy 2015a). This means that you may have sickle cell disease yourself, or it may mean that you are just a carrier (sickle cell trait). If you are a carrier of the sickle cell gene, you will probably not show any signs or have any symptoms (CGE 2015).
The diagram above shows that there is a one in four chance of a baby having sickle cell if both parents are carriers (CGE 2015, NHS 2016a). But that doesn’t mean that one in four of those parents’ babies will definitely have sickle cell.
The chance of having a boy or girl is about one in two. But we all know families that have all boys or all girls. The same thing happens with inherited conditions, so one family may have more than one baby with sickle cell, while another family does not have one with the disease. How do I find out if I am a carrier of sickle cell? You will not be regularly tested for the sickle cell gene during your pregnancy. But if you think that there is a risk that you are a carrier, or if your family background indicates that there is a possibility that you are a carrier, you can ask for a blood test to be done.
If you carry the sickle cell gene, your baby’s father must also be tested. If you are trying to get pregnant and you think you might be at risk, you can ask for this test before you get pregnant. How do I find out if my unborn baby has sickle cell? There are three ways to find out if your unborn baby has sickle cell:
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At this stage, fetal blood sampling – where your doctor takes a sample of blood from the umbilical cord – is not offered in Australia.
It is up to you whether you have your baby tested during pregnancy. This can be a difficult decision because unfortunately these tests carry a risk of miscarriage. Your doctor should clearly explain the risks and benefits of the test to help you make your choice.
In some countries where sickle cell disease is more common, all babies are screened for it shortly after birth.
Finding out that your baby has sickle cell disease can be a shock. You may feel scared and that you don’t know what to expect. You may feel responsible for your baby’s condition.
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It’s perfectly natural to have these feelings, but the reality is that neither you nor your baby’s father are to blame. The most important thing is that you will have lots of expert support to help you and your baby as she grows. What are the symptoms of sickle cell disease? Sickle cell disease causes a range of symptoms, including:
Episodes of pain: This is the most common symptom of sickle cell disease (Meremikwu 2009, NHS 2016a). Your baby may experience sudden pain, also known as a sickle cell crisis. This happens when the sickle cells get stuck in the small arteries, preventing normal blood flow. These episodes of pain can last from a few hours to a week. The episodes may occur once or twice a year, or more than 10 times a year. Your baby may have:
Anemia: This means your baby does not have enough red blood cells. That’s because her sickle cells die early, before they can be replaced with new red blood cells. Your baby’s anemia is likely to be quite mild and will not cause any problems (Tidy 2015a). Your baby can:
Infections: This happens because your baby’s sickle cells are not flexible enough to fit through her spleen. The spleen is an organ that filters the blood for infections. Your baby’s body may be less able to fight off bacteria and viruses. Some infections, such as pneumonia, meningitis, blood poisoning (septicemia) or bone infections, can be more serious and can develop into sepsis (Booth et al 2010, Meremikwu 2009, Tidy 2015a). Sepsis is a complication of an existing infection that occurs when the body begins to attack itself.
Sickle Cell Disease (scd)
Acute chest syndrome: This happens when your baby has an episode of pain in her lungs. This can also happen if she has a lung infection, such as pneumonia (Maakaron 2015). The symptoms are the same for both conditions, so it’s hard to tell without tests in the hospital. Acute chest syndrome is serious and should be treated immediately (Maakaron 2015, RCHM n.d.). This can cause:
If you think your child has acute chest syndrome, take her to a hospital emergency department straight away or call 000.
Your baby’s symptoms may start to show when she is a few months old (NHS 2016a). She will need help to manage these symptoms throughout her life. On occasion she may need to go to the hospital. Some symptoms can be serious or even life-threatening if left untreated.
But symptoms tend to come and go. Most of the time, your baby can feel fine. With the help of your doctor, you should be able to help your baby stay well at home. How is sickle cell disease treated? Sickle cell disease is treated in a variety of ways. The right care can help limit how often your baby feels unwell as she goes through life.
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Your baby will be referred to a specialist sickle cell care team, which is likely to be based in a hospital (NHS 2016a). The team may include a pediatrician, a blood specialist called a hematologist, and expert nurses.
This team will give your baby regular checkups as she grows. The team can help you look after your baby, and can show you how to care for her at home. With all this support around her, your baby should be able to have a fairly normal childhood.
If your baby is very sick and requires frequent specialist care, you may find it helpful to live close to the hospital. How can I care for my baby with sickle cell disease? Try not to do things that will trigger your baby’s symptoms. Your sickle cell care team at the hospital will give you a plan to help you care for your baby.
Is there a cure for sickle cell disease? In most cases, sickle cell disease cannot be cured. But some people can have a bone marrow or stem cell transplant from a suitable donor. It provides a lasting cure.
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Giving normal bone marrow or stem cells to someone with sickle cell disease means they will produce healthy red blood cells. But even if a donor is found, it can be a complicated and risky procedure (NHS 2016a, Tidy 2015a). Where can I get help and support? There are support groups available in Australia for people with the disease. Other resources are available overseas.
References Booth C, Inusa B, Obaro SK. 2010. Infection in sickle cell disease: A review. Int J Infect Dis 14(1):e2-12
Neats C. 2015b. Sickle cell trait and sickle cell screening tests. Patient, Health Information. patient.info [Accessed June 2016]
Megan Rive is a communications, content strategy and project delivery specialist. She was editor for six years. Tame the SRU. The SRU is the “Shock Resuscitation Unit.” It is a melting pot of clinical training for the residents of the University of Cincinnati Emergency Medicine Residency training program.
Sickle Cell Anaemia
Sickle cell anemia (SCA) is one of the most common genetic disorders. Due to a single point mutation in the beta-hemoglobin gene, the hemoglobin molecule of patients with sickle cell disease is less soluble under deoxygenated conditions. This results in a chronic hemolytic anemia and vaso-occlusion leading to pain and tissue infarction with numerous secondary complications. (1) Given the morbidity of sickle cell disease, these patients frequently present to the emergency department, raising questions
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