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All About Sickle Cell Disease

Many people often ask what is Sickle Cell Disease In many cases, individuals have the condition without knowing. What is Sickle Cell?

 

Sickle Cell anaemia is a blood disorder that causes anaemia (shortage of red blood cells) and periodic pain. In people with Sickle Cell Disease, not all of their haemoglobin (a molecule in red blood cells that carries oxygen to other parts of the body) works properly. Some of the haemoglobin forms long, rod-like structures that cause the red blood cells to be sickle-shaped and stiff.

 

These cells can clog small blood vessels, preventing some organs or tissues from receiving enough oxygen. When this happens, it can cause episodes of severe pain or damage organs and tissues, and may lead to other serious medical problems.

What causes Sickle Cell Anaemia?

 

Sickle Cell anaemia is caused by an error in the gene that tells the body how to make haemoglobin. The defective gene tells the body to make the abnormal haemoglobin that results in deformed red blood cells. Children who inherit copies of the defective gene from both parents will have sickle cell anaemia. Children who inherit the defective sickle haemoglobin gene from only one parent will not have the disease, but will carry the Sickle Cell trait. Individuals with Sickle Cell trait generally have no symptoms, but they can pass the sickle haemoglobin gene on to their children.

The error in the haemoglobin gene results from a genetic mutation that occurred many thousands of years ago in people in parts of Africa, the Mediterranean basin, the Middle East, and India. A deadly form of malaria was very common at that time, and malaria epidemics caused the death of great numbers of people.

Studies show that in areas where malaria was a problem, children who inherited one sickle haemoglobin gene and who, therefore, carried the Sickle Cell trait – had a survival advantage. Unlike the children who had normal haemoglobin genes, they survived the malaria epidemics they grew up, had their own children, and passed on the gene- for sickle haemoglobin.

As populations migrated, the sickle cell-mutation spread to other Mediterranean areas, further into the Middle East and eventually into the Western Hemisphere. In the United States and other countries where malaria is not a problem, the sickle haemoglobin gene no longer provides a survival advantage. Instead, it may be a serious threat to the carrier’s children, who may inherit two abnormal sickle haemoglobin genes and have Sickle Cell anaemia

What is Sickle Cell Trait?

 

Sickle Cell trait is a person who carries one sickle haemoglobin producing gene inherited from their parents and one normal haemoglobin gene. Normal haemoglobin is called type A. Sickle haemoglobin called S. Sickle Cell trait is the presence of haemoglobin AS on the hemoglobin electrophoresis. This will NOT cause Sickle Cell disease. Other haemoglobin traits common in the United States are AC and AE traits.

Sickle Cell is a worldwide problem which affects different nationalities

 

Myth: Only the Black Minority Ethnic population gets Sickle Cell disease.

Truth: Sickle Cell is a disease that affects people of all different cultural and ethnic backgrounds, including African, Arabian, Israeli, Greek, Italian, Hispanic, Turkish, and Pakistani. Contrary to popular believe, it is entirely possible for a blond-haired, blue-eyed child of Northern European extraction to have Sickle Cell disease. For this reason, in all UK hospitals, all ethnic backgrounds now are screened at birth for the type of haemoglobin responsible for causing Sickle Cell disease.

Myth: You can catch Sickle Cell disease from another person.

Truth: Sickle Cell is not contagious. It’s strictly an inherited disease, and only people who are born with this genetic defect can develop it.

Myth: I was informed that our child has got Sickle Cell Disease because both of us have a defective gene?

Truth: This is true for one form of the disease (known as HbSS), but there are other types in which only one parent has passed on the Sickle Cell gene and the other has passed on a gene for another type of anaemia, such as thalassaemia, that combine to produce sickle cell disease.

Myth: People with Sickle Cell disease cannot get malaria.

Truth: People with Sickle Cell disease can contract malaria, and may either die or suffer through it and survive, just like anyone else. However, people with Sickle Cell trait tend to be more resistant to malaria-the trait doesn’t completely protect a person from infection, but it makes death from malaria less likely. This survival advantage is believed to explain the worldwide pattern of Sickle Cell in many peoples who frequently are exposed to malaria, such as those who live in sub-Saharan Africa, around the Mediterranean, and on the Indian subcontinent.

Myth: Nothing has changed in Sickle Cell treatment. It’s the same for my child as it was for my uncle who died at a young age of Sickle Cell 30 years ago.

Truth: Sickle Cell treatment now is greatly improved from 30 years ago-or even 5 years ago. People with Sickle Cell now have a life expectancy at least into their mid 40’s due to several recent advances in care. Methods for preventing infections and treating complication have heightened the improvement in life expectancy. Early detection of sickle cell through newborn screenings also improves survival from lung, spleen and stroke problems. Bone-marrow transplants now can cure some Sickle Cell children who have immunologic-matched siblings to serve as donors. Screening children to find those at high risk of stroke allows effective preventive treatment. Making sure that you and your child’s doctor keep up-to-date with sickle cell care will allow you to enjoy the benefits of future medical advances. The future looks bright because more treatments are in the research pipeline.

Myth: All of Sickle Cell care is medical in nature and administered by doctors and other healthcare workers. Nothing is under our control as a family.

Truth: The reality is there’s a significant amount family members can do to care for a child with sickle cell. It is imperative families need to strike a balance between completely denying the presence of the disease, and living in a bubble. They can learn to recognize problems early on, when medical treatment often is more effective, and they can take precautions to ward off pain crises. Flexibility in responding to problems and building up a support system of friends and family can make a big difference in how much a child’s life is affected by Sickle Cell.

Myth: I don’t need to tell the doctors about my child having Sickle Cell trait, because this condition has no health implications at all.

Truth: Although it is a rare occurrence, Sickle Cell trait can cause bleeding from the kidneys. And under extremely severe conditions-at the limits of human endurance, such as exercise at high altitude, for example-people with the trait can develop the same health problems as someone with Sickle Cell disease. Also, when your child grows up, if she and her partner both have Sickle Cell trait, they should be aware that their children could be born with Sickle Cell disease.

Regular medical checkups and treatment are also important. Checkups may include tests for possible kidney, lung, and liver diseases. See a sickle cell anaemia expert regularly. Also, see an eye doctor regularly to check for damage to your eyes.

Learn the signs and symptoms of a stroke. They include a lasting headache, weakness on one side of the body, limping, and sudden changes in speech, vision, or hearing. If you have any of these symptoms, report them to your doctor promptly.

Get treatment and control any other medical conditions you have, such as diabetes or kidney problems.

Talk to your doctor if you’re pregnant or planning to become pregnant. You will need special prenatal care. Sickle cell anaemia can worsen during pregnancy. Women who have sickle cell anaemia also are at an increased risk for an early birth or a low-birth-weight baby. However, with early prenatal care and frequent checkups, you can have a healthy pregnancy.

Some symptoms that warrant medical attention

Acute chest syndrome: Inflammation or trapped red blood cells in the lungs cause this syndrome. Signs include chest pain, coughing, difficulty breathing, and fever. First impression can appear to be similar to flu like symptoms, however it is important to see a consultant ASAP failing that an immediate visit to the hospital is imperative.

Hand-foot syndrome (also called dactylitis): This painful swelling of the hands and feet, plus fever, may be the first sign of sickle cell anaemia in some infants.

Infection: Children with sickle cell disease are at increased risk for certain bacterial infections. Therefore it is important for them to be taking penicillin speak to your consultant about this. It’s important to watch for fevers of 101° Fahrenheit (38° Celsius) or higher, which could signal an infection. Children with sickle cell disease and fever should be seen by a consultant without delay.

Painful crises/episodes: These may occur in any part of the body and may be brought on by cold or heat or dehydration. The pain may last a few hours or up to 2 weeks or even longer, and may be so severe that a child needs to be hospitalised.

Splenic sequestration crises: The spleen becomes enlarged by trapping (or “sequestering”) the abnormal RBCs. This leads to fewer cells in the general circulation. Early signs include paleness, weakness, an enlarged spleen, and pain in the abdomen.

Aplastic crisis: This is when the bone marrow temporarily slows its production of red blood counts due to infection or another cause, resulting in a severe drop in the red cell count and severe anaemia. Signs include paleness, fatigue, and rapid pulse.

Non Medication Treatment

 

At times you may find it very useful using non medication treatments in parallel with day to day medication or as a preventative measure. Physical therapists can use mild exercises and heat and cold treatments to assist with Sickle Cell disease pain.

One may find it to be valuable for people with Sickle Cell disease to see a psychologist, social worker or counsellor to get help coping with the illness or learn techniques that may be helpful in controlling pain. It can also be helpful for family members of individuals with Sickle Cell disease to speak with a health professional about the frustration and stress they may feel at times.

Massage – especially at the first signs of a crisis, massage can decrease muscle stiffness and potentially reduce pain.

Transcutaneous Electrical Nerve Stimulation (TENS) – a low intensity electrical current can sometimes be effective for pain relief. They can by purchaed from your local chemist, request the dual tens model they cover a larger area the are very safe to use pregnant women use them.

Relaxation techniques – learning how to relax can help patients cope better with the illness and pain.

Distraction – engaging activities (such as hobbies, video games, books and movies) this can change the individual’s focus can help reduce stress and pain.

Psychotherapy – speaking with a health professional about the stress and frustration of Sickle Cell disease and/or learning cognitive/behavioural techniques for coping with the condition can be beneficial.

Acupuncture and acupressure – can be useful in helping to relieve stress and manage pain. Your G.P or consultant can sometimes refer you, failing that try to achieve a good hourly rate from your local physiotherapist.

Physical therapy – gentle exercises and heat and cold treatments can help with Sickle Cell disease pain.

Learning how to relax using breathing techniques.

Relaxation techniques are useful exercises to help reduce tension, decrease concern, improve sleep, and make you feel usually much calmer. These techniques use physical and mental activities, which focus attention on calming the body and mind, generating feelings of relief.

Practicing and continually employing such technique can amount to significant benefit pre post and even during a Sickle cell crisis. Good relaxation should begin with relaxed breathing. This will help prepare you for deeper relaxation. Once you master relaxed breathing, you can continue to add other relaxation exercises to your routine.

Relaxed (Diaphragmatic) Breathing

Given that breathing is second nature to us, we seldom think about the way that we breathe. Learning to breathe abdominally (through the diaphragm) can promote relaxation, which improves physical and mental health. Over time, most people begin to breathe by moving their chest and/or shoulders. However, if you watch a baby breathe, you will see that they breathe by moving their belly, which is the most efficient way to take in oxygen and remove carbon dioxide with the least effort.

The diaphragm is the muscle that controls breathing. It is a dome-shaped muscle that sits beneath the lungs, above the abdominal cavity. When a breath is taken, the diaphragm flattens out, allowing the lungs more room to expand with air. When air is exhaled from the lungs, the diaphragm returns to its arched shape. Though breathing is an automatic function, the movements of the diaphragm can be controlled voluntarily with training. Learning how to control the diaphragm and the way we breathe can be beneficial in many ways:

Some of the Benefits Experienced

Allows the most efficient exchange of oxygen and carbon dioxide with the minimum effort

Can promote general relaxation

Removes toxic products from the blood

Slows down heart rate and breathing rate

Focuses the mind

Can reduce stress and anxiety levels

Improves circulation

 

Relaxed Breathing

The best way to begin relaxed breathing is lying down on your back. Once you are comfortable breathing in this position, and you mastered this concept you can then try it sitting and standing.

You should practice diaphragmatic breathing frequently for short periods of time. At first, maybe 10-15 times per day for 1-2 minutes each time. Try to practice in different situations, such as lying down, sitting, standing, on a bus, walking or in the car. Performing relaxed breathing techniques can become a quick and easy method to alleviate stress.

Method

It may help to put one hand on your stomach (over your belly button) and one hand on your breastbone. Watch to see which hand is moving more when you breathe in and out. Try to get the hand on your stomach to move more as you breathe, without forcing it.

Each time you breathe in, imagine a balloon filling with air, and each time you breathe out, imagine the balloon deflating.

Be sure to breathe in a slow, gentle, and natural way. If you become dizzy or light-headed, take smaller breaths and slow down.

Click here to try relaxation methods, remember to use you diaphragmatic breathing techniques.

Pain Management

 

Good health care and good self management in the community, many people who have Sickle Cell anaemia can live productive lives. They also can have reasonably good health much of the time and live longer today than in the past. Many people who have Sickle Cell anaemia now live into their forties or fifties, or longer.

If you have Sickle Cell anaemia, it’s important to:

 

– Implement or maintain a healthy lifestyle

 

– Explore ways to manage with pain

 

– Take steps to prevent and control complications

Implement and maintain a healthy lifestyle

To take care of your health, you should implement or maintain healthy lifestyle habits. Follow a healthy eating plan. Your doctor may suggest that you take folic acid (a vitamin) every day to help your body make new red blood cells. You also should drink at least 8 glasses of water every day, especially in warm weather. This will help prevent dehydration (a condition in which your body doesn’t have enough fluids).

Your body needs regular physical activity to stay healthy. However, you should avoid exercise that makes you very tired. Drink lots of fluids when you exercise. Talk with your doctor about how much and what kinds of physical activity are right for you.

You also should get enough sleep and rest. Tell your consultant if you think you may have a sleep problem, such as snoring or sleep apnea. Sleep apnea is a common disorder in which you have one or more pauses in breathing or shallow breaths while you sleep.

Talk to your Consultant about whether you can drink alcohol and what amount is safe for you. If you smoke, quit. Talk to your consultant about programs and products that can help you quit smoking.

Explore ways to cope with pain

Symptoms of Sickle Cell disease vary and range from mild to severe Pain is experienced differently by each person. Pain that is bearable by one person can easily be too challenging for another person. Work with your specialist consultant/ doctor to find ways to manage your pain. Make a dairy to start to identify pain triggers.

Other ways to manage pain include using a heating pad, taking a hot bath, resting, or getting a massage. Physical therapy might help ease your pain by helping you relax and strengthening your muscles and joints. Using a tens machine cognitive behaviour therapy

Counselling or self-hypnosis also may help. You may find that activities that keep your mind off the pain, such as watching TV and talking on the phone, praying is helpful.

Take Steps to Prevent and Control Complications

Along with healthy lifestyle habits, you can take other steps to prevent and control painful sickle cell crises. A number of factors can cause Sickle Cell crises. Knowing how to avoid or control these factors can help you manage your pain.

You may want to avoid decongestants, such as pseudoephedrine. These medicines can tighten blood vessels and further prevent red blood cells from moving smoothly through the vessels.

Avoid extremes of heat and cold. Wear warm clothes outside in cold weather and inside of air-conditioned rooms. Don’t swim in cold water or climb at high altitudes without extra oxygen.

Reduce the stress in your life. Talk to your consultant if you’re depressed or encountering difficulties on the job or with your family. Support from family and friends as well as a support group can help you cope with daily life.

It is crucial to, avoid jobs that require a lot of physical labour, expose you to extremes of heat and cold, or involve long work hours.

Also, don’t travel in airplanes where the cabins aren’t pressurised (that is, no extra oxygen is pumped into the cabin). If you must travel in such an airplane, talk to your doctor about how to protect yourself.

Get flu jabs and other vaccines to prevent infections. You also should see your dentist regularly to prevent infections and loss of teeth. Contact your doctor if you have any signs of an infection, such as a fever or trouble breathing. Getting treatment right away is important.

Caring for Children with Sickle Cell Anaemia

 

If you have a child or teenager that has Sickle Cell anaemia, you can take steps to learn about the disease and help your child manage it on a day-to-day basis. It is important to remember not to be over bearing throughout life you cannot be with them all of the time they are going to have to learn how to self manage with guidance and support the earlier the better.

Teenagers who have Sickle Cell anaemia must manage their condition, while also dealing with the stresses of the teen years. These teens also face some specific stresses related to Sickle Cell anaemia, including:

Body-image problems caused by delayed sexual maturity.

Coping with pain and fear of addiction from using addictive pain alleviating medicines.

Living with uncertainty. (Sickle Cell anaemia is unpredictable and can cause pain and damage to the body at any time.)

Teen support groups and family and individual counselling are ways to support teens that have Sickle Cell anaemia. Embarking on an Expert Patient Programme may also be conducive in boosting moral and addressing with coping mechanisms.

Caring for a Child Who Has Sickle Cell Anaemia

If your child has Sickle Cell anaemia, you should learn as much about the disease as possible. This will help you recognise early signs of problems, such as fever or chest pain, and seek early treatment.

Sickle Cell centres and clinics can give you information and counselling to help you handle the stress of coping with your child’s condition.

Ongoing Care

Your child will need to see the consultant often for blood test. The consultant also will check your child for any possible damage to his or her lungs, kidneys, and liver.

Talk to the consultant about your child’s treatment plan, how often he or she needs checkups, and the best ways to help keep your child as healthy as possible. Be cautious but not overly protective a strong mind set helps along life journey with this condition.

Preventing Infections

To prevent infections, make sure your child gets all of the vaccines that his or her doctor recommends. (For more information on vaccines, see your Consultant or GP.

Good hygiene also can help prevent infections. Make sure your child washes his or her hands often. This will help lower the chances of getting an infection.

Call the doctor right away if your child has any signs of infection, such as fever or trouble breathing. Keep a thermometer on hand and know how to use it. Call a doctor if your child has a temperature above 101 degrees Fahrenheit (38.5 degrees Celsius).

Preventing a Stroke

Familiarise yourself with the possible signs and symptoms of a stroke so you can take early action. Signs and symptoms include a lasting headache, weakness on one side of the body, limping, and sudden changes in speech, vision, or hearing. Changes in behaviour also may be a sign of a stroke.

Talk with the consultant about whether your child needs regular ultrasound scans of the head. These scans can show whether your child is at high risk for a stroke.

Calling the Doctor

Call right away if your child has any signs of a stroke or infection. You also may need to call if your child has:

Swelling of the stomach. If the spleen gets larger than normal, you may see or feel swelling below the lower left rib. Your child may complain that the area feels tender.

Pale skin or nail beds or a yellowish colour on the skin or on the whites of the eyes.

Sudden fatigue (tiredness) with no interest in his or her surroundings.

An erection of the penis that won’t go away.

Pain in the joints, stomach, chest, or muscles.

A fever.

Swelling of the hands or feet.

School-aged children can often, but not always, take part in physical education or sports. However, your child’s doctor should approve any activity. Ask the doctor about safe activities for your child. It is imperative that you advise your child’s school or nursery of the child’s condition supply them with information.

It is now confirmed that all pregnant women in England thought to be at risk of having a child with Sickle Cell disease will be offered a screening test for the blood disorder. This is in addition to universal screening of pregnant women for thalassaemia.

The introduction of a national antenatal screening test for the haemoglobinopathies should mean an end to surprise diagnoses among infants presenting with severe overwhelming infections and splenic crises, said Allison Streetly, Director of the NHS Sickle Cell and Thalassaemia Screening Programme. “Ultimately, every baby born with one of the blood disorders should be expected and be the result of an informed choice,” she said. “And appropriate and comprehensive care should be available from birth.”

The antenatal screening programme for the haemoglobinopathies runs alongside the National Programme for screening newborn babies for Sickle Cell disease.

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