Sickle cell anaemia (sickle cell disease)
Sickle cell anaemia is an inherited disorder of the blood. Because of a single changed letter in one gene, haemoglobin clumps into stiff fibres whenever…
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Medicines commonly prescribed for Sickle cell anaemia (sickle cell disease)
For informational purposes only. Always consult a doctor before using any medicine.
Dosage form: EFFERVESCENT TABLET, 500 mg paracetamolActive substance: paracetamolManufacturer: Upsa S.A.S.Prescription not requiredDosage form: TABLET, 650 mg paracetamolActive substance: paracetamolManufacturer: Teva Pharma S.L.U.Prescription requiredDosage form: TABLET, 500 mgActive substance: paracetamolManufacturer: Mabo Farma S.A.Prescription not required
Sickle cell anaemia is an inherited disorder of the blood. Because of a single changed letter in one gene, haemoglobin clumps into stiff fibres whenever oxygen runs short, and the red cell stops being a flexible disc and becomes a crescent shaped like a sickle. Those cells live several times less than they should and get stuck in small vessels. Hence the two main strands of the illness: a permanent anaemia, and attacks of severe pain wherever the blood flow has been cut off. It is a lifelong condition, but it long ago stopped being a childhood one: with follow-up, vaccination and modern treatment people reach adulthood, work and raise families. The emphasis on this page is on what most often goes wrong — pain that is not taken seriously, and the signs you cannot afford to wait on.
Where it comes from
The gene comes from the parents, and there is no other way to acquire the condition: you cannot catch it and you cannot bring it on by how you live. Nor are the parents at fault in any way; it is not the consequence of anything they did during the pregnancy.
Genes come in pairs, one copy from the mother and one from the father. For a child to be born with the disease, the altered gene has to arrive from both. Someone with a single copy is a carrier: they are well, they have neither anaemia nor crises, and as a rule they do not know until a blood test says so. If both parents are carriers, each of their children has roughly a one in four chance of being born with the disease, one in two of being a carrier, and one in four of inheriting nothing. Those proportions apply afresh to every pregnancy; they are not shared out among the children.
The altered gene is commonest in people whose ancestors came from sub-Saharan Africa, the Caribbean, the Near and Middle East, India and the Mediterranean — that is, from where malaria was widespread, because being a carrier gave some protection against it.
Finding out whether you are a carrier takes nothing more than a blood test, and it can be done at any time. In many countries the disease is picked up in the maternity unit through the newborn heel-prick test, and carrier testing is offered during pregnancy; the timing and the arrangements depend on the country. If both prospective parents are known to be carriers, the conversation with a genetics service is worth having before the pregnancy rather than after.
What happens in the body
Sickle cells break down faster than normal ones and the bone marrow cannot replace them quickly enough. The result is a constant anaemia — one of an entirely different origin from the sort that iron tablets treat. It causes pallor, tiredness and breathlessness on exertion, and in some people a yellowish tinge to the skin and the whites of the eyes. After certain viral infections the haemoglobin can drop sharply, and then a transfusion is needed.
The second strand is blockage of the vessels. It explains both the sudden pain and the damage organs accumulate over the years:
- the spleen. In most children it is damaged within the first few years and stops working, and it is precisely the organ that protects against bacterial infection. That is why any fever in this condition is not a small matter;
- the lungs: acute chest syndrome, and over the years raised pressure in the pulmonary vessels;
- the brain: stroke can happen in a child too, with no warning at all;
- the kidneys: blood in the urine, bedwetting in children, and loss of function over time;
- the eyes: damage to the retinal vessels, floaters, failing sight;
- bones and joints: pain, and destruction of the head of the femur;
- the skin: leg ulcers that will not heal;
- the gallbladder: stones from the constant breakdown of red cells;
- in children, slowed growth and late puberty.
How severe the course will be cannot be predicted: some people have a couple of crises a year, others one every month.
The crisis: what it is like and what to do
A pain crisis is the commonest and the most punishing feature of the disease. The pain appears wherever the flow has been cut off: the back, the arms and legs, the chest, the abdomen. In small children the first sign is often painful swelling of the hands and feet. An episode lasts from several days to several weeks, and its intensity is compared to that of major surgery or of labour. Cold, dehydration, infection, stress, hard physical effort or an abrupt change of temperature can set it off — but very often no reason is found at all.
A mild crisis is usually managed at home: plenty to drink, warmth on the painful area, rest, and painkillers from the pharmacy — paracetamol or non-steroidal anti-inflammatories. Aspirin is not given to children or adolescents. If there is no improvement after a few hours, or if the pain is severe from the outset, do not draw it out: hospital is needed, where pain relief is given with drugs of the opioid group, often intravenously, alongside intravenous fluids and oxygen where indicated. Waiting to see whether it passes is a poor bargain here: the later pain relief is started, the harder the pain becomes to control, and the greater the risk of missing something worse behind the crisis.
Why this pain is so often underestimated
It is rarely written about, but it is worth knowing in advance: people with this condition are systematically not believed. Someone in terrible pain can look calm, simply because they have lived with it for years and learned to hold themselves together; the blood tests at that moment may be close to normal; and pain itself cannot be measured by anything. The upshot is that in emergency departments such patients are often suspected of having come for an opioid, and are made to wait longer than anyone with equally severe pain from another cause. This is not a matter of feelings: under-treatment of pain in sickle cell disease is documented and acknowledged as a problem.
What helps in practice:
- carry a summary or card stating the diagnosis, the form of the disease, your usual pain relief regimen and the contact details of your haematology team. Paper works better than explanations;
- state the diagnosis straight away, along with what usually works for you and what you have already taken at home and when;
- ask them to contact your specialist centre — they know your history;
- if you can, have someone with you who is able to speak for you if you get worse.
When help is needed urgently
Several complications of this disease develop within hours. In every case below you should contact your centre immediately or go to hospital, and if the person is too unwell to get there unaided, call an ambulance; in Spain, Italy, Portugal, Poland and Ukraine the single number is 112. Always tell the staff that the patient has sickle cell disease: it changes the whole order of what they do.
- Fever. In a child, any rise in temperature; in an adult, from 38 °C. The spleen offers no protection, and an infection that looks ordinary can turn into blood poisoning within hours. This is not one of the things that waits until morning.
- Chest pain, breathlessness and cough, sometimes with fever — signs of acute chest syndrome, a serious lung complication. It is one of the main reasons for admission and needs attention at once.
- Signs of stroke: the face has dropped on one side, the arm will not lift, speech has become slurred, weakness or numbness down one side, severe headache, seizures, confusion or unusual drowsiness. In this condition stroke happens in children as well.
- In a child, sudden pallor, listlessness and a rapidly swelling abdomen, often with pain under the left ribs. That is what splenic sequestration looks like: blood pools in the spleen and a child can lose their circulating volume into it in a short time. Parents of young children are usually taught to feel for the spleen; if nobody has shown you, ask.
- A painful erection lasting more than a few hours (priapism). Delay here is paid for with permanent loss of function, so seek help without waiting for morning, however awkward the conversation feels.
- Sudden loss of vision, or a sharp deterioration in one eye.
- Pain that does not respond to home measures, and also severe vomiting or diarrhoea: dehydration on its own drives a crisis.
How to have fewer crises
The disease cannot be fully controlled, but the number of attacks and admissions comes down with quite ordinary measures.
- Drink enough — in hot weather, during exercise, and with any illness that brings a temperature. Dehydration is the most controllable trigger there is.
- Do not get cold. Dress for the weather, do not plunge into cold water, do not sit under the flow from an air conditioner.
- Take care with altitude. Mountains and unpressurised aircraft can set off a crisis; ordinary commercial flights do not pose that problem.
- Keep moving, but without extremes: activity is good for you, exertion to the point of exhaustion and breathlessness is not.
- Do not smoke, and limit alcohol: smoke raises the risk of acute chest syndrome and alcohol dehydrates.
- Sleep, and bring the pressure down. This is not empty advice: tiredness and stress genuinely precede a proportion of attacks.
- Keep vaccinations up to date. Besides the usual schedule you need pneumococcal, meningococcal and haemophilus vaccines, the annual flu jab and hepatitis B. Timing follows your country's national schedule.
- Take preventive antibiotics if they have been prescribed. Children are usually given them daily from the first months of life and for several years; this is one of the measures that has most reduced childhood deaths in this disease.
- Keep a kit ready at home: painkillers, a thermometer, a heat pack and that summary card.
The treatment that changes the course of the illness
Follow-up is best at a centre that deals with blood disorders: kidneys, eyes, lungs and heart are checked regularly there, and children have an ultrasound scan of the brain vessels so that stroke risk is spotted in time.
The main disease-modifying treatment is hydroxyurea (hydroxycarbamide). It makes the body produce more of the haemoglobin a person had before birth, and that haemoglobin keeps the cells from taking on the sickle shape. On it, crises and episodes of acute chest syndrome become appreciably less frequent. It is taken continuously, at a dose the doctor adjusts, with regular blood tests, because the drug can lower the numbers of other cells. Anyone planning a pregnancy comes off it in advance.
What else is used:
- folic acid — a bone marrow working under strain needs more raw material;
- blood transfusions — one-off in severe anaemia or acute chest syndrome, and regular where the risk of stroke is high. Anyone receiving many transfusions is prescribed medicines that clear the excess iron;
- bone marrow transplant — the only way to be rid of the disease for good. It is done infrequently, mainly in children with a severe course and a suitable donor, because the procedure itself carries serious risks;
- newer medicines and gene therapy. Options have appeared in recent years that did not exist before; availability differs from country to country, and they are worth discussing with your own treating team;
- treatment of complications — from removing the gallbladder and dressing leg ulcers to hormonal support where puberty is delayed.
Separately: iron supplements are of no use in this anaemia and can do harm. There is already too much iron in the body, particularly in anyone who is transfused.
Pregnancy, surgery and travel
Pregnancy is possible and most often ends well, but it is better planned. The risk of complications — anaemia, more frequent crises, pre-eclampsia, preterm birth — is higher than usual, so obstetrician and haematologist follow the pregnancy together, and hydroxyurea is stopped before conception. It is useful to know in advance whether your partner is a carrier. If pregnancy is not wanted at the moment, reliable contraception is essential; which method suits you is a matter to settle with your doctor.
For any operation under general anaesthetic, the surgeon and the anaesthetist need to know the diagnosis beforehand. Anaesthesia, cooling and dehydration on the table are recognised triggers of a crisis, so warmth, fluids and oxygen are watched throughout, and blood is sometimes transfused in advance.
Before travelling you will need medication for the whole trip and to spare, a summary in a language understood at your destination, insurance, and a clear idea of where to go for help there. In areas where malaria occurs, prophylaxis is essential: malaria runs a particularly severe course in this disease.
Online consultation
A great many questions in this condition are settled by talking rather than examining. An Oladoctor doctor can help you work out whether your pain fits your usual crisis or whether signs have appeared that mean going to hospital; explain how to prepare for travel, pregnancy or planned surgery; suggest how to put together a patient card so that emergency staff understand you faster; and answer your questions about carrier status and the risk to future children. If what you describe points to an emergency, you will be told so straight away.
This material is for information only and does not replace medical advice.
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