Booklet information on Sickle Cell Disease

Booklet information on Sickle Cell Disease

Transcript of Booklet information on Sickle Cell Disease

Booklet information on

Sickle Cell Disease

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This booklet information on sickle cell disease has been prepared by the

Education Committee of the Sickle Cell Disease Assocation of Canada . It is

dedicated to patients and families. We hope it will provide useful information on

sickle cell disease.

Members of the Education Committee

Yves Pastore

Joseph Macaulay

Heather Gordon

Sandra Newton

Shereese Maragh

Jean-Claude Bini

Prepared on September 2014

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What is Sickle Cell Disease? Sickle Cell Disease (also called Sickle Cell Anemia) is a condition you have inherited and are born with. It is caused by an abnormality in a protein called hemoglobin. Hemoglobin is found in high quantities within the red blood cells. Its role is to carry oxygen from the lungs to all parts of your body, which keeps your vital organs working.

Normal red blood cells are the most abundant cells in the blood. They have a round shape that looks like a doughnut. Red blood cells circulate easily in all blood vessels. The haemoglobin dissolves easily within the red blood cell (almost like sugar in water). In people with sickle cell disease, the body, causing cells to stick or clump together, makes abnormal sickle cell haemoglobin. This can and causes the red blood cells to take on an unusual shape The sickled red blood cells become stiff and less flexible than normal red blood cells, and can block blood vessels as they travel through the body. This can lead to many sickle cells complications such as severe pain and damage to organs. Sickled red blood cells are also more fragile and are destroyed by the body more quickly than regular red blood cells are, which leads to lower than normal hemoglobin levels (also known as anemia).

What causes Sickle Cell Disease? Sickle cell disease is an inherited condition. Many common characteristics, such as skin, eye, and hair colour and height are also inherited through genes (genetic material) passed on to children by their parents. Some diseases may occur because abnormal genes have been inherited. If you have sickle disease, you have inherited an abnormal hemoglobin gene from each parent.

Are there different types of Sickle Cell Diseases? The hemoglobin S gene is the most frequently inherited type of gene for sickle cell disease. Most affected individuals have two S beta-globin gene, also known as hemoglobin SS disease. The combination of one S beta-globin gene with another type of abnormal beta-globin gene such as beta-thalassemia, hemoglobin C, or other rare abnormal beta-globin genes (Hemoglobin O-Arab, Hemoglobin D-Punjab, etc) may also lead to sickle cell disease. Hemoglobin S-Beta thalassemia tends to be as severe as hemoglobin SS disease, whereas hemoglobin SC tends to be milder.

What sort of information should I ask to my healthcare provider about living with sickle cell disease?

Ask about the type of sickle cell disease that you and been diagnosed with

Discuss on how to encourage close relatives (parents and siblings) to alsohave themselves tested for sickle cell disease

If you have a partner and would like to have children, discuss on how yourpartner should also be tested to determine your chances of having anaffected child.

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Why is newborn screening important? Newborn screening programs have been developped in order to detect severe disease that may not be apparent at birth. Early dtection is crucial to favor early introductin of interventions such as preventive medications, to prevent complications of the disease.

Sickle cell disease can be diagnosed by a blood test. This can be done soon after birth. The benefits of newborn screening include early diagnosis, early intervention (treatment and prevention), and long-term follow-up. Newborn screening is performed in a number of Canadian provinces, but is not available in all provinces at this time.

Examples of newborn screening program: - Ontario newborn screening program - Specific Ontario sickle cell newborn program:

- Quebec newborn screening program:

- Quebec newborn screening program:

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What are the complications to look for? Sickle cell disease is associated with a wide range of complications, which may be acute or chronic. Acute complications appear suddenly and may lead to hospitalisation. Chronic complications are the result of organ damage and develop more slowly. The sickle cell complications develop because of the breakdown of the red blood cell (hemolysis) and by blocking the flow of blood in the blood vessels (vaso-occlusion). This most commonly causes pain, especially in the bones. Other painful complications include priapism (see below), damage to shoulder and hip joints (avascular necrosis), chest pain (acute chest syndrome). There are also a lot of problems that may not be painful. These include damage to the lungs, heart (heart failure, pulmonary hypertension), kidney, liver and eyes, and also stroke, leg ulcers, infections. Because it can damage all of these body “systems”, Sickle Cell disease is an example of a “multisystem disorder”.


What is a “sickle cell pain crisis”? Pain is the most frequent manifestation of sickle cell disease and the most frequent cause for hospitalisation. While some may experience pain on daily basis, pains often arise as crisis. If you have experienced a pain crisis, you might be able to recognize when a pain crisis starts. In very young infants, a pain crisis may appear as painful swelling of the extremity (known as Hand-Foot syndrome). By getting older, you may recognize early when a pain crisis will appear. Try to learn how to recognize this, as treating a pain crisis early may help to resolve it more quickly.

Can I prevent from having a pain crisis? A pain episode can be triggered by cold exposure, dehydration, strenuous effort, stress. The best way to prevent a pain crisis, is to avoid potential triggers: try to keep warm in cold weather, drink enough fluid, and not getting dehydrated in the heat of summer. Avoid and reduce any stresses in your life as much as possible and look after your health.

What can I do if I am having a pain crisis? If you feel a crisis coming on, try to rest and drink plenty of fluids and use your pain killers/analgesia. Take the pain medication as soon as you feel a pain crisis starting. If your haematologist prescribed you stronger pain medication like morphine, take them as prescribed. It is easier to stop a pain crisis getting worse if you hit the pain hard when it first comes on. You should never apply cold to a place that hurts, as this will worsen the pain crisis. Massage or use of heat (for example using warm towels) in addition to pain medication may also help reduce the pain intensity.

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What should I discuss with my health care provider regarding pain crisis?

Discuss the type of medication you could use to stop a pain crisis

Make sure you can have strong pain medication at home to stop a pain crisis.

If you are not on hydroxyurea, discuss if this medication may be helpful toreduce pain crisis frequency and severity.

Try to keep track on the medication that worked the best to control your pain.You may ask your doctor on which medication is recommended for you,based on the one that worked best, with the least side effects for you.

When should I go to the hospital if I have a pain crisis? You should go see your health care provider or to the ED if:

Your pain is not sufficiently improved by taking oral medications

If you are unable to take oral medications

If you’re having chest pain or difficulty breathing as this may be the first signof an acute chest syndrome (see acute chest syndrome below).

If you are having pain in certain articulations. In particular, hip pain associatedwith limping may be a sign of osteonecrosis (see osteonecrosis below).

If you are a man and are having pain in your genitals, as this could be thesign of priapism (see priapism below).

If you are having fever (defined as an oral temperature above 101°F or 38°C).


What is Acute chest syndrome The acute chest syndrome is a severe complication of sickle cell disease. It is some sort of pain crisis affecting the lung, that may cause difficulty breathing along with chest pain and various respiratory symptoms (such as shortness of breath, chest pain, difficulty breathing, etc). Acute chest syndrome can be difficult to differentiate from a lung infection. If you are diagnosed with acute chest syndrome, you will need to be hospitalised as this is a serious complication which can be life threatening in most severe cases. In the hospital, the doctor may recommend that you receive a blood transfusion or an exchange blood transfusion (see below) in addition to pain medication and antibiotics.

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What is Priapism? This is a painful crisis affecting the penis, so only occurs in boys and men. The penis can be very hard and painful and you are unable to stop the erection. It may last a short time and happen frequently (stuttering), or you may get just one attack, which is lasting for several hours (fulminant). It often comes on at nighttimes when the bladder is full.

Can I prevent priapism to happen if I already experienced one of such episode? You can try to prevent priapism by urinating before going to bed at night, and if you wake during the night. Some medications may also help preventing recurrence.

What can I do if I have priapism? Priapsim attack is treated like any other painful crisis: take large amount of fluids, pain relief and keep warm. You may find a warm bath or shower can help. Trying to urinate may also help the priapsim to resolve. If the priapism is lasting more than 60 minutes, you should go to ED as there is a risk of permanent damage to the penis and impotence. In ED they may try the measures suggested above, or may try to remove the sickled blood from the penis with a needle and syringe. This can very quickly end the priapism and make you feel better.

What should I discuss with my health care provider if I have priapism?

If you have had several episodes of priapism, you should discuss with yourheamtologist on medication that can help preventing new episodes.Pseudofed tablets can help to prevent further attacks. Hydroxyurea may alsohelp preventing further attacks.

Discuss why some medications may not be used.

You should not try to use self-prescribed medications. In particular, youshould not try to take Viagra (sildenafil), as such medication has been shownto increase the risk of severe pain crisis episodes.

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What is osteonecrosis Osteonecrosis is also known as avascular necrosis or aseptic necrosis. It is a particular pain crisis affecting certain joints that affects more frequently the hip or shoulder articulations. Other joints may also more rarely be affected. It may lead to severe joint destruction and long term handicap. Hip osteonecrosis may require hip replacement.

What are the signs of osteonecrosis? Joint pain, in particular when associated with movement limitation may be the early signs of osteonecrosis. For example, hip osteonecrosis is associated with difficulty walking and limping.

How can osteonecrosis be recognized? Diagnosis of osteonecrosis may require special radiological examination. If your doctor thinks you may have such complication, he may ask for joint MRI or bone scintigraphy, some of the most sensitive tests if standard X-ray are normal. What should I discuss with my health care provider on osteonecrosis?

If you have had a severe joint pain, particularly if it affects your hip orshoulder, discuss if you should require a special radiological exam todiagnose osteonecrosis.

If you just have been diagnosed with osteonecrosis, discuss if hydroxyureamay prevent further damage. Some studies showed that hydroxyurea mayslow down osteonecrosis progression.

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Why am I at higher risk for infection when I have sickle cell disease? The spleen is an organ that filters the blood, removing old or distorted blood cells. In sickle cell disease, the spleen function is very quickly damaged by the many sickled red cells. The spleen also looses its abiliy to protect against special infection due to aggressive bacterias known as encapsulated bacterias. Bacterias such as hemophilus, pneumococcus and meningococcus can cause extremely severe and pontentially deadly infections. If you have sickle cell diasese and are infected with one of such bacterias, the infection may spread extremely quickly and lead to death within hours if left untreated.

By having Sickle Cell Disease, you are also at much higher risk to have bone infection, particularly if you have a salmonella gut infection.

Can I reduce the risk of having a severe infection? You should make sure that you be properly vaccinated. In addition to the usual recommended vaccinations, you should make sure that you received anti-haemophilus, anti-pneumococcal and anti-meningococcal vaccinations to improve your capacity to fight such deadly infections. Young children should also receive antibiotic prophylaxis, as it has been shown to significantly the risk of severe bacterial infection

What shall I do If I have fever? In case of fever (defined as an oral temperature above 101°F or 38°C), you should visit your doctor or go to the ED in order to be promptly evaluated and receive at least one dose of adequate antibiotic. In case you are diagnosed with an infection, the doctor may recommend that you remain hospitalised.

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I have been told to remove my spleen. Why? We often do not recommend removing the spleen. Very early in life and in most adults the spleen eventually shrinks and is not palpable in most. In children, and sometimes in adults, there can be a crisis where all your blood suddenly gets trapped in the spleen (sequestration crisis). This can be life threatening, and if it happens more than once, it may be recommended to remove the spleen to stop it happening again. The surgery (Splenectomy) can often be done by keyhole surgery (laparoscopic) and is a fairly straightforward operation. As the spleen helps fight infection, you will be immunized before the surgery.

I would like to know more on splenic sequestration? Splenic sequestration is a complication that occurs mostly in young children. However, persons with haemoglobin SC disease may have such complications at an older age, and adults have also been reported with such complication. In splenic sequestration, a large quantity of blood is being entrapped in the spleen, which does no longer circulate. Someone with splenic sequestration may suffer from very severe anemia and in most severe cases may die if not receiving an urgent blood transfusion.

How can splenic sequestration be recognized? In case of splenic sequestration, signs of worsening anemia will appear (severe fatigue, increased tiredeness, fussiness, palor). An enlarged spleen is palpable. As this complication is more frequent in children, parents with a child affected with sickle cell disease are taught on how to palpate the spleen. If your child has sickle cell Disease, ask your doctor on how to palpate the spleen, and recognize the early signs of splenic sequestration.

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Is it true that I may be at risk to have stroke? Sickle cell disease may lead to abnormalities in the vessels in the brain: the cerebral vasculopathy. Up to 10% of children may present cerebral vasculopathy and up to 25% of adults with sickle cell disease may suffer from stroke, in particular if you have haemoglobin SS or haemoglobin S-beta thalassemia disease. Stroke is however rare in those with haemoglobin SC disease.

Are there any tests to evaluate my risk for stroke? If you have haemoglobin SS or S-beta thalassemia, it is recommended that you have at least yearly transcranial Doppler. If this test is not feasible for you, your doctor may recommend that you have other radiological tests such as a brain MRI.

What if my transcranial Doppler is abnormal? If the test is abnormal, your doctor may recommend that you receive regular blood transfusion or get exchange blood transfusion, the best way to reduce the risk for stroke.

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What are the sickle cell chronic complications? Sickle cell disease may damage your organs. Many chronic complications may not be recognized if not searched for properly. Chronic complications may affect virtually all organs. Some of such complications include: Cardiac complications such as progressive heart failure, pulmonary

hypertension. Renal complications: such as chronic renal failure. In most severe cases, this

may require dialysis. Eye problems: sickle cell may lead to damage in the blood vessels on the

retina. Sickle cell retinopathy needs to be searched for by specialisedophthalmologist.

Gallstone: increased destruction of red blood cells may lead to formation ofstones in the gallbladder. The gallbladder is some sort of a sac attached tothe liver. Stone formation in the gallbladder can lead to abdominal pain andjaundice. If you have been diagnosed with gallstone and are symptomatic,your doctor may recommend having your gallbladder removed by surgery.

Leg ulcers: ulcers may appear in lower extremities. If you have a leg lesion,such as a scar that does not heal properly, you should talk with your doctor.

Can chronic complications be detected and prevented? By seeing your doctor in clinic, when not in crisis, you have an opportunity to discuss ways of coping with Sickle Cell Disease, and reducing complications. If you are not followed in a dedicated sickle cell center, you may want to ask you health care provider to be referred to a haematologist or sickle cell center with good expertise in Sickle Cell Disease.

It is recommended that you have a good lifestyle habit. Good life style can make a big difference. These include regular exercise, a good diet, not smoking and not drinking too much. Reducing the amount of stress in your life is also important, as is avoiding things that can provoke a painful crisis. You can reach out to a social worker in a Hospital or a Community Health Centre near to help you manage stress. Making sure you are up to date with vaccinations can help to prevent serious infections. Discuss with your haematologist if you should receive treatment such as hydroxyurea. Your doctor may also discuss to put you on regular blood transfusions.

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How can having sickle cell disease affect my everyday life?

Sickle cell disease is a lifelong condition and will have an impact on health, relationships, and functioning at school and work. Educating yourself about your disease and learning how best to manage it is essential for maintaining a healthy lifestyle as normal as possible. Social and family functioning may be interrupted in times of illness or disability arising from complications of sickle cell disease. Interference with one’s ability to maintain a regular work schedule and workload may contribute to work-related pressures, potential underemployment, and financial stressors for some. Many people are unsure of whether to share their sickle cell status with others, including friends, extended family, teachers, and employers for fear of stigma or discrimination. With very few exceptions, it can be beneficial to let educators and employers know about the ways that sickle cell disease may affect school attendance, learning, and the ability to perform work tasks at your usual level. Members of your medical team, including your doctor, nurse, social worker, and psychologist are available to discuss your concerns with you and to help make discussions with these individuals easier. They can also put you in touch with resources that describe your legal entitlement to certain supports and protections in school and work environments.

How can sickle cell disease affect family life? A diagnosis of sickle cell disease can affect one or more members of the same family in very different ways. Having a relative with a chronic illness such as sickle cell disease may affect a family dynamic greatly. Acute complications may be hard to predict. When they occur, normal family routines may be interrupted for short or long periods. Parents may experience unresolved guilt or anger about their child’s diagnosis. Individuals affected by sickle cell disease may view themselves differently than family members that are not affected, and may feel isolated or limited by their condition in ways that other family members are not, potentially affecting self-esteem and self-concept over time without appropriate intervention. It can be challenging for parents to balance their attention and resources in equally among children and adolescents in the family when one is particularly ill and requires additional care and resources. Tensions between affected and unaffected siblings may arise in some situations. Families that cope best tend to have educated themselves well about sickle cell disease, have developed good communication and organizational styles, have access to responsive and effective specialized care, have access to good support among extended family and friends and employ ‘active’ coping methods when difficult times come. Your medical team, including your physician, nurse, social worker and psychologist can support you and your family with development of family functioning, parenting, and other tools strategies that can help to make living with sickle cell disease easier.

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HYDROXYUREA What is Hydroxyurea? Hydroxyurea is a drug (capsule) that was originally used to treat some forms of blood cancer (Leukemia) and blood disorders that can later turn into Leukemia. It has been used for over 30 years to treat Sickle Cell Disease. Hydroxyurea works in a few different ways, but the main way is to increase your body’s production of Fetal (baby) Hemoglobin. We know that this significantly decreases the Sickle Cell Disease severity and may protects you against some of the chronic complications. Recent studies have also demonstrated that the life expectancy of someone with Sickle Cell is improved by taking hydroxurea. It is a safe drug and there is no evidence to suggest increases the risk of cancer in patients with Sickle Cell Disease. Like all drugs, it does have some side effects, and you need regular blood test monitoring. It is recommended that hydroxyuera not to be given to a pregnant or lactating woman. Unlike pain killers, which you take when required, Hydroxyurea must be taken every day to be effective.

Is hydroxyurea really a safe drug? Hydroxyurea is the only drug therapy available for Sickle Cell Disease. As any medication, hydroxyurea may have some side effects. One of the most frequent side effect of HU is to decrease blood cell counts. For this reason, HU needs regular monitoring of blood count. It may have other very mild side effects. Hydroxyurea however has many benefits that clearly outweigh the rare side effects. It has been shown reduce pain episodes, chest complications; decrease risk to have blood transfusion, as well as many other sickle cell complications. HU may also decrease risk of dying from SCD complications.

How is hydroxyurea being given? The medication is usually started at a lower dose, adapted to your body weight. Hydroxyurea may also be given in small infants even before the age of 1 year old; in such cases, the pharmacist can prepare hydroxyurea in a liquid formulation. After starting the medication, your doctor will require you to have your blood count checked more regularly. This is usually done once every two weeks at the beginning or whenever the dosage of hydroxyurea is changed. Once the medication has been increased to an ideal dose, monitoring (blood tests) may be performed less frequently (once every 3 to 4 months)

What should I discuss with my health care provider about hydroxyurea? Ask your HCP if you should receive HU, as well as risk/benefits of such important therapy.

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Why may I be offered this treatment? You are most likely to be offered Hydroxyurea because you have lots of painful crisis or Acute Chest Syndrome. It may also be offered if there is concern about damage to any of your body organs from the Sickle Cell Disease, or as an alternative to blood transfusion treatment. Recent studies have also demonstrated that hydroxyurea can be safely given to infants and may therefore be initiated in the very first years of life, to prevent therefore even earlier in life complications to occur.


What is the difference between Blood Transfusion and Blood Exchange therapy? Blood transfusions in Sickle Cell Disease can be carried out in 1 of 3 ways. The easiest way is to simply transfuse units of blood, or a “top-up transfusion”. This improves the supply of oxygen to your body. The most complex way of receiving blood is by “automated red cell exchange” (erythrocytopheresis). This involves hooking you up to a machine that automatically filters of the Sickled Red Blood Cells and replaces it with new, normal Red Blood Cells. The alternative to these, is a “partial manual exchange transfusion”, whereby a nurse will remove 2 units of blood and then give you a 2 unit transfusion. These 3 methods all have advantages and disadvantages and are suitable for different reasons.

When do I need Blood Transfusion and/or Blood Exchange therapy? Transfusions are most commonly given for patients who have had a stroke or are found to be at high risk of having a stroke. It can also be given for a severe crisis, such as Acute Chest Syndrome or if you are very sick and need to be cared for in Intensive Care. You may need a blood transfusion if you are very anemic (aplastic crisis), which is usually due to a viral infection (cough or cold). It may also be appropriate to give you a transfusion if you are pregnant and there are complications, or if you are planning on having major surgery. Blood transfusion may also be needed for a particular complication known as splenic sequestration.

Why is Phenotypical blood better for me? Phenotypically matched blood means that the blood has been matched to your blood group as closely as possible. This reduces the chance of having a transfusion reaction and of developing an Antibody to the blood. However, because most blood donors are from ethnic backgrounds different to Sickle Cell Disease patients, there is a limited supply of suitable blood.

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How can I help increase Phenotypical blood reserve? Encourage friends and family members unaffected by sickle cell disease or other blood disorders to donate blood. This will help to increase the proportion of blood bank reserves coming from diverse ethnic groups, which is very much needed in Canada. The Canadian Blood Service (CBS) and HemaQuebec (HQ) would like to recruit more blood donors from the ethnic minorities. If you have friends or family who want to help people with Sickle Cell Disease, becoming a blood donor, is a very practical, valuable and worthwhile way to help. If you would like to arrange a blood donor drive or session, the CBS or HQ can help with this. Although you cannot donate blood if you have Sickle Cell Disease, some of your family members who have Sickle Cell Trait can donate. Even though the blood from someone with sickle cell trait cannot be used for a patient with Sickle Cell Disease, any blood donation is invaluable to the community and can be life-saving.

Is there a cure for sickle cell disease? At present, Bone Marrow Transplantation is the only curative therapy. Bone marrow transplantation has been mostly performed in children with immunologically identical siblings (so called HLA-indentical siblings). A great deal of research is currently underway to help improveidentification of potential donors and to reduce toxicitiy of treatment as well as possible long-term effects of this procedure. Recent research has shown very extremely promising results by improving donor source and reduce transplantation risks and complications in young patients; however, information regarding outcomes of bone marrow transplantation in adults is limited at this time.

There is a great deal of research in progress at the moment to investigate the potential for gene therapy and new drug treatments, but these are in the experimental stage at the moment.

Why are Clinics and Hospital Admissions and Emergency Care important? It is important to maintain regular medical checkups and appointments to keep sickle cell disease well-managed and to keep you feeling as healthy and well as possible. These visits are important even when you are feeling well and have not been having many difficult disease complications or pain episodes. Although it is often felt that care received for sickle cell disease complciations in the Emergency Room setting is not ideal, it is important for you to go to hospital to be seen by the medical team in cases of sickle cell pain crisis or other serious complications of sickle cell disease. It may not be safe to treat all complications at home without monitoring by your medical team. Some medical concerns can more serious than they first appear to be.

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Is it important to have a specialist supervise my care, or is monitoring by my family doctor adequate/enough? It is very important that you have a Family Physician who can provide day to day and long term care to you and to look after any other health related issues. It is also important that you are seen by a specialist (a hematologist) to make sure there are no complications or serious problems with the Sickle Cell Disease and to be able to offer advice on treatments, and other complex issues, such as family planning and genetic testing. It may also be very helpful to belong to and participate in patient advocacy groups as these are a great source of advice and assistance to individuals, as well as their role in advocating for patients as a whole. It is important to understand your health and condition, as this then lets you take charge of your health and cope with the Sickle Cell Disease better. It can often be useful to write down questions before seeing the doctor, as many people forget what they want to ask, once in the consultation room.

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- What is sickle cell disease – National Heart, Lung and Blood Institute (NIH) :

- About kids health :

- Center for Disease Control (CDC):

Canadian Sickle Cell Associations :

- Sickle Cell Disease Association of Canda :

- Sickle Cell Anemia Group of Ontario :

- The Sickle Cell Association of Ontario :

- Association d’anémie falciforme du Québec :

- Dr. Ade’s Sickle Cell Association of Manitoba

- Sickle Cell Disease Association of Nova Scotia

- Camp Jumoke

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