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Sickle cell disease: Reducing the global disease burden
Contents:
  1. [PDF] Understanding Sickle Cell Disease (Understanding Health and Sickness Series) [Full Ebook]
  2. Other Popular Unbranded Products In Basic Medical Sciences
  3. Sickle cell disease: A practical guide for parents
  4. Sickle Cell Disease

When a child is born with sickle cell disease, it's impossible to predict which problems will develop, when they will start, or how bad they will be. During the first 6 months of life, infants have a high level of fetal hemoglobin HbF in their blood, which protects them from red blood cell sickling.

But dangerous complications of sickle cell disease may quickly develop between ages 6 months and 5 years, after levels of fetal hemoglobin decrease. Older children and adults with sickle cell disease may have few problems. Or they may have a pattern of ongoing complications that shortens their lives. The most common and serious problems caused by sickle cell disease are anemia, pain, and organ failure.

Stroke affects around 10 out of children who have sickle cell disease. Other complications of sickle cell disease include:. A child's risk of getting sickle cell disorder occurs when he or she inherits one sickle cell gene and one other type of defective hemoglobin gene. They don't have symptoms of sickle cell disease, and their bodies don't make sickled blood cells. People whose ancestors were from Africa, India, the Middle East, the Mediterranean Turkey, Italy, Greece , and some Latin American countries are more likely to inherit the gene that can cause sickle cell disease.

For more information, see a picture of the risk of passing on an autosomal recessive disease such as sickle cell disease. Call or other emergency services immediately if you have sickle cell disease and one or more of the following symptoms are present:. Call your doctor if you or your child has any of the following symptoms:. Make a pain management plan with your doctor that includes where and when to get treatment in case of a sickle cell emergency. Painful events crises can be treated at home depending on how severe the pain is and how long you've had it.

For more information, see Home Treatment. If you or your child has sickle cell disease, your family doctor or general practitioner will refer you to a hematologist. You may be referred to other health professionals who provide specialized treatment or counselling:. Sickle cell disease is diagnosed when initial tests show abnormal hemoglobin , with more testing if needed.

A sickle cell test looks for sickle cell trait and sickle cell disease. Doctors can diagnose sickle cell disease before a child is born prenatally. Couples who are at risk for passing on this disease to their children may want to talk with a genetic counsellor about prenatal testing. Sickle cell disease can be diagnosed at birth. You can also ask for screening. Soon after birth, a sample of blood is taken from the infant's heel and sent to a lab, where it is screened for the presence of sickle cell hemoglobin hemoglobin S. If one member of a couple has sickle cell disease or sickle cell trait, the other member should be tested before becoming pregnant.

This test requires a blood sample, which is screened for the presence of hemoglobin S, hemoglobin C, or beta-thalassemia. If one or both members of a couple carry a hemoglobin S gene or another abnormal hemoglobin gene, the couple may want to meet with a genetic counsellor before becoming pregnant to learn more about their chances of having a child with sickle cell disease.

Your doctor can help you find a genetic counsellor to discuss a genetic test. Pulmonary hypertension is a severe, common problem for people who have sickle cell disease. It can be detected early with an echocardiogram , a painless method of measuring blood flow. Treatment involves getting routine tests to monitor health, managing pain events crises , and treating related health problems as they arise. Treatment for severe cases of sickle cell disease may include medicines. For more information, see Medications. When parents learn that their baby has sickle cell disease, it's the beginning of a lifelong education process.

Knowing as much as you can about the disease can help you control symptoms as they arise and know what to do in emergency situations. Treatment includes:. Starting at age 2 years, your child should get screened every now and then with a transcranial ultrasound. This test measures blood flow in the arteries of the head and neck. If test results show a high chance for stroke , your child may get blood transfusions to lower the risk. Pain is sometimes a chronic problem for people with sickle cell disease.

Your doctor or a pain treatment specialist can help you develop pain management skills. These skills include distraction, guided imagery , deep breathing, relaxation , and positive self-talk. Painful events can happen suddenly and unpredictably and can become life-threatening. Bouts of severe pain can last for hours to days and are difficult to treat.

They're exhausting for caregivers as well as for the person in pain. For more information, see the topic Chronic Pain. Severe episodes of prolonged erection of the penis priapism need evaluation by your doctor. Treatment may include fluids hydration , pain medicines, treatment by a urologist , and blood transfusions. There are also things you can do at home to manage pain. To learn more, see Home Treatment. A series of blood transfusions is the treatment of choice to prevent strokes and treat other aspects of sickle cell disease. Stem cell transplant is a rare treatment.

For more information, see Other Treatment. People with sickle cell disease should avoid contact with anyone suspected of having fifth disease , which is caused by parvovirus. Parvovirus can cause the body to temporarily stop making blood cells, a severe life-threatening problem in someone who has sickle cell disease.

[PDF] Understanding Sickle Cell Disease (Understanding Health and Sickness Series) [Full Ebook]

Aplastic anemia can occur as a result of a shortage of red blood cells. It can come on suddenly and is life-threatening if not treated. People with sickle cell disease and their families face ongoing stress. For help coping, see Home Treatment. Sickle cell disease is an inherited blood disorder that is not preventable. Home treatment for sickle cell disease includes steps to control pain and prevent complications of the disease.

If you don't already have a home treatment plan, ask your doctor to help you make one. Use this plan whenever symptoms are present. Your plan may include tips for:. You can help your child cope with special needs in school by:. Children with sickle cell disease can usually exercise and play normally if they:.

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Folic acid supplements are often a necessary part of the diet for people with sickle cell disease, particularly if you aren't eating enough folate-rich leafy vegetables such as spinach. Medicines that treat sickle cell disease include hydroxyurea and various pain medicines.

Some of these medicines require a prescription. Others are available over the counter. Pain medicine may work best when combined with pain management skills , such as distraction; guided imagery; deep breathing; relaxation; and positive, encouraging self-talk. Pain treatment for sickle cell disease pain varies depending on how bad the pain is and how long the pain lasts. Medicines that treat the pain include over-the-counter pain relievers such as ibuprofen and prescription opioids such as codeine. Opiate pain medicines are used under careful medical supervision.

Some sickle cell complications are treated with surgery. Surgery options include:. Blood transfusions may be used for sickle cell disease. They are the treatment of choice to prevent strokes and treat other aspects of this disease. They can reduce the risk of some complications and improve symptoms of severe anemia. Stem cell transplants can cure sickle cell disease.

But they are not common. This information does not replace the advice of a doctor. Healthwise, Incorporated disclaims any warranty or liability for your use of this information. Your use of this information means that you agree to the Terms of Use and Privacy Policy.

Learn How this information was developed. To learn more about Healthwise, visit Healthwise. All rights reserved. Healthwise, Healthwise for every health decision, and the Healthwise logo are trademarks of Healthwise, Incorporated. This information does not replace the advice of a doctor. Healthwise, Incorporated disclaims any warranty or liability for your use of this information.

Your use of this information means that you agree to the Terms of Use and Privacy Policy. Learn How this information was developed. To learn more about Healthwise, visit Healthwise. All rights reserved. Healthwise, Healthwise for every health decision, and the Healthwise logo are trademarks of Healthwise, Incorporated. Top of the page. Topic Overview What is sickle cell disease? What causes sickle cell disease?

What are the symptoms? How is sickle cell disease diagnosed? How is it treated? How do you manage life with sickle cell disease? Tips for you Learn what triggers, or sets off, painful events called sickle cell crises. Triggers often include cold temperatures, wind, dehydration , and too much exercise.

Low oxygen caused by cigarette smoke, high altitude, and plane flights is another common trigger.


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A support network can help ease stress and worry. Ask your doctor if there is a support group in your area. Tips for helping your child Make sure that your child takes antibiotics regularly until age 5 to prevent infections. And make sure he or she receives all the usual immunizations on schedule. Your child can take part in normal school activities. Make sure that teachers understand your child's special needs, like needing frequent drinks and bathroom trips and avoiding overexertion and cold temperatures.

Cause Sickle cell disease is an inherited blood disorder, passed from parent to child. Symptoms Painful events sickle cell crises in the hands or feet, belly, back, or chest are the most common symptom of sickle cell disease. Symptoms related to chronic anemia Most people who have sickle cell disease have at least mild symptoms of chronic anemia, which may include: Weakness.

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Tiredness fatigue. Pale appearance. Yellowing of the skin and the whites of the eyes jaundice. Shortness of breath, especially when they are active. Symptoms caused by sickle cell crisis Painful sickle cell crisis symptoms are caused by blocked blood vessels in bones, organs, and other tissues. What Happens Normal red blood cells have a day lifespan. Sickle cell disease may cause problems such as: Sickle cell crisis , which happens when blood vessels are blocked.

This is a common condition of sickle cell disease. Splenic sequestration , usually seen in infants and young children during or after a simple respiratory infection. Large numbers of sickled red blood cells get trapped in the spleen. It can cause sudden and life-threatening anemia. Acute chest syndrome , most common in children but more severe in adults. Symptoms include coughing and chest pain, which may occur after an infection or painful event.

Severe infections.


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  • The Art of Strategic Therapy.

Aplastic crisis , which may occur after infection with some viruses. During an aplastic crisis, bone marrow stops producing red blood cells, which causes sudden and severe anemia. Children who have sickle cell disease often grow more slowly than normal and go through puberty later than children who don't have the disease. Open sores ulcers on the legs and feet, commonly during adulthood. These ulcers can be very painful and heal slowly. Some may last for years.

Eye damage. Long-term vision problems may result from blocked blood flow in the inner lining of the eye retina. A lung problem called pulmonary hypertension where blood pressure is very high in the lungs. What Increases Your Risk A child's risk of getting sickle cell disorder occurs when he or she inherits one sickle cell gene and one other type of defective hemoglobin gene. If one parent has sickle cell disease two hemoglobin S genes and the other has two normal hemoglobin A genes, each of their children will have sickle cell trait.

None of the children will have sickle cell disease. When To Call a Doctor Call or other emergency services immediately if you have sickle cell disease and one or more of the following symptoms are present: Difficulty breathing or shortness of breath Chest pain Severe abdominal belly pain Sudden weakness Sudden numbness or tingling in the hands, feet, fingers, or toes even if it goes away on its own Sudden poor balance and poor coordination when walking even if it goes away on its own Confusion even if it goes away on its own Garbled speech or an inability to speak even if it goes away on its own Sudden change in vision Severe headache Loss of consciousness Fever higher than Increased paleness Light-headedness Persistent erection of the penis priapism that lasts more than 2 to 3 hours or is extremely painful Severe pain that can't be relieved with your usual prescription painkilling drugs or other pain-relief methods Call your doctor if you or your child has any of the following symptoms: A painful event sickle cell crisis An open sore ulcer on the leg More frequent urination than usual Make a pain management plan with your doctor that includes where and when to get treatment in case of a sickle cell emergency.

Who to see If you or your child has sickle cell disease, your family doctor or general practitioner will refer you to a hematologist. You may be referred to other health professionals who provide specialized treatment or counselling: Pain management specialist Pediatrician Pediatric hematologist - oncologist Respirologist Neurologist Ophthalmologist General surgeon Medical geneticist.

Examinations and Tests Sickle cell disease is diagnosed when initial tests show abnormal hemoglobin , with more testing if needed. Prenatal testing Doctors can diagnose sickle cell disease before a child is born prenatally. Prenatal tests include: Amniocentesis.

Sickle cell disease: A practical guide for parents

Chorionic villus sampling CVS. Infant screening Sickle cell disease can be diagnosed at birth. Adult screening If one member of a couple has sickle cell disease or sickle cell trait, the other member should be tested before becoming pregnant.

Treatment Overview Treatment involves getting routine tests to monitor health, managing pain events crises , and treating related health problems as they arise. Treatment for children When parents learn that their baby has sickle cell disease, it's the beginning of a lifelong education process. Treatment includes: Routine childhood immunizations. Immunizations in adulthood are important too.

Daily antibiotics from 2 months to 5 years of age to prevent life-threatening infections. This practice stops at age 5 because older children don't have as many severe infections. The medicine hydroxyurea. Multivitamin supplements with iron during infancy. Folic acid supplements daily. Protein supplements if there is a lag in weight gain. Urine test. Tests to monitor the functioning of organs. Tests to check for vision problems. Tests for hepatitis C if frequent blood transfusions are given.

Managing pain Pain is sometimes a chronic problem for people with sickle cell disease. What to think about A series of blood transfusions is the treatment of choice to prevent strokes and treat other aspects of sickle cell disease. Prevention Sickle cell disease is an inherited blood disorder that is not preventable. Home Treatment Home treatment for sickle cell disease includes steps to control pain and prevent complications of the disease.

Your plan may include tips for: Managing pain. Home treatment for prolonged erection of the penis priapism. Staying healthy. Coping with stress and worry. Managing a child's special needs You can help your child cope with special needs in school by: Making arrangements with teachers or a tutor to help your child keep pace with classmates when illness causes absences from school. Explaining to teachers that children with sickle cell disease may need to use the bathroom more often than other kids. They also need more water than the other students.

Not drinking enough water can raise the chance of a sickle cell crisis. Educating teachers and other school employees about the signs and symptoms of sickle cell disease that need urgent medical care. Written instructions will help school personnel know what to do and who to call in an emergency. The SCDTDP consisted of nine teams comprised of community centers, doctors, sickle cell departments, emergency room coordinators, parents and patients.

Our Role: Facilitated a Breakthrough Series learning collaborative to apply quality improvement methodology to sickle cell disease care and education in a variety of settings. Led the development of expert-reviewed quality measures for sickle cell disease e.

Sickle Cell Disease

In these roles, we collected, monitored and distributed best practice data and findings, identified protocols for the treatment of sickle cell disease and related complications, and identified and disseminated educational materials related to sickle cell disease. Implicit Bias Resource Guide. Maternal Depression: First Steps. Rare Diseases Deserve Our Attention.