Sickle cell disease in children: newborn screening, crises, infection protection and care

The Sickle Cell Society explains that sickle cell disorder is a group of inherited blood disorders affecting haemoglobin, the protein in red blood cells that carries oxygen. In sickle cell, red blood cells can become hard, sticky and crescent-shaped, block small blood vessels and cause episodes of severe pain; they also break down faster than healthy cells, causing anaemia. The most common and severe form is sickle cell anaemia (HbSS), and there are other types such as HbSC and HbS beta thalassaemia.

It is present from birth and cannot be caught. NHS inform says the condition is more likely in people from African, Asian, Caribbean, Eastern Mediterranean or Middle Eastern backgrounds, and the NHS explains that if both parents carry the sickle cell gene a child will either have the condition or carry the trait. A carrier does not have the disease and cannot develop it.

The NHS says pregnant women are usually offered screening by a midwife before 10 weeks, and that sickle cell disease is one of the conditions most babies are checked for with the newborn blood spot (heel prick) test, which also helps confirm whether a baby has the disease or is a carrier. The UKHSA newborn blood spot programme lists sickle cell disease among the conditions screened for. NHS inform says another blood test confirms the diagnosis if the heel prick suggests the baby could have it.

A GP can arrange a carrier test for anyone at any time, the NHS says. Families are then supported by a team in a specialist sickle cell centre, according to NHS inform, which develops a care plan to help the family understand the condition.

The NHS lists pain in bones, joints, muscles or chest, weakness and tiredness, swelling in the hands and feet, breathing problems, more frequent infections and stomach pain, noting that symptoms affect everyone differently and for most people come and go. A sickle cell crisis is sudden, severe pain that can last hours, days or weeks, and can be triggered by dehydration, a sudden change in temperature and stress.

NHS inform says the hands or feet are especially commonly affected in young children, and that triggers include cold, rainy or windy weather, stress, dehydration or exercise that leaves a person severely out of breath. Almost everyone with sickle cell disease has anaemia, though it usually causes no symptoms unless made worse, for example by parvovirus, which causes slapped cheek syndrome.

The NHS says to call 999 if:

• you think you are having a sickle cell crisis and have severe pain, breathing difficulties or are being sick

• you have sickle cell disease and you have a high temperature

• you have a painful erection that does not go away (priapism)

NHS inform lists a fever of 38C or higher, difficulty breathing, drowsiness, confusion or slurred speech, severe headache, stiff neck or dizziness, very pale skin or lips, fits, serious pain not responding to treatment at home, sudden swelling in the tummy, weakness on one or both sides of the body, and sudden vision loss or changes as needing immediate medical advice. It adds that the medical team should always be told the person has sickle cell disease. It also describes acute chest syndrome, a serious lung condition with chest pain, cough, breathing difficulty and fever, which needs emergency treatment.

The NHS says treatments aim to control symptoms or prevent other problems: painkillers, antibiotics such as penicillin to help prevent serious infections particularly in children, vaccinations including pneumonia and meningitis vaccines, hydroxycarbamide (hydroxyurea) to help reduce pain crises, blood transfusions and red cell exchange. The Sickle Cell Society says preventive penicillin, or erythromycin in the case of allergy, is prescribed to all infants from the age of 3 months to prevent overwhelming pneumococcal sepsis.

NHS inform says crises can usually be managed at home with paracetamol or ibuprofen (no aspirin under 16), warmth, fluids and distraction, and to phone the GP or go to A&E if pain is very severe or does not settle. It also says iron supplements should not be given without talking to the care team, because sickle cell anaemia is not the same as iron deficiency anaemia, and that children on restricted diets may need folic acid.

The NHS suggests drinking plenty of fluids, avoiding sudden temperature changes such as very cold water, staying up to date with vaccinations, gentle to moderate exercise and breathing exercises. It says sickle cell disease increases the risk of complications such as stroke, eye problems and damage to the lungs, heart and kidneys, so regular check-ups and following the care plan matter. The Sickle Cell Society says more people are living longer with sickle cell than ever before, and that consistent high-quality specialist care throughout life is important.