Sickle cell disease: symptoms, care and inheritance

Sickle cell disease is an inherited blood condition in which red blood cells can change shape and block blood flow.

The altered cells may break down sooner than usual and can become stuck in small blood vessels. This can lead to anaemia, episodes of pain and injury to organs over time. It is not contagious.

Pain can develop when sickled cells restrict blood flow, often in bones, joints, chest or abdomen. Fatigue, jaundice, pale skin, joint pain and blood in urine are common presentations of sickle cell disease. Fever, chest pain, breathing difficulty, severe headache, weakness on one side, or a painful erection require urgent assessment.

A child develops sickle cell disease by inheriting a changed haemoglobin gene from each parent. Haemoglobin carries oxygen inside red blood cells. Lower oxygen levels, dehydration, illness, temperature extremes and stress can encourage cells to sickle and may trigger symptoms in some people.

The condition lasts throughout life, but its pattern differs between people. Some have long stable periods, while others experience repeated pain episodes or anaemia-related symptoms. Regular review helps a clinical team notice changes early and adjust a care plan around school, work, travel and family life.

Complications are more likely during infections, dehydration and other situations that reduce oxygen delivery or increase physical stress. Young children need particular protection from infection. Pregnancy, surgery and long-distance travel should be planned with the team managing the condition.

A blood test can identify the type of haemoglobin present. Testing may be arranged after newborn screening, when symptoms raise concern, or when family history is known. Genetic counselling and premarital screening can explain carrier status and support informed reproductive decisions.

Care may include medicines to reduce pain episodes, pain relief during crises, vaccinations, antibiotics in selected situations, blood transfusion for particular complications, and medicines that modify haemoglobin production. The right plan is individual and is usually led by a haematology team.

Drink regularly, avoid becoming overheated or very cold, pace demanding activity and keep planned appointments. Carry a summary of your condition and usual medicines when travelling. A written plan for pain episodes can help you and people around you recognise when home measures are no longer enough.

Blocked blood flow and ongoing breakdown of red cells can affect the lungs, spleen, kidneys, eyes, bones and brain. Clinicians monitor for anaemia, infection, stroke, chest complications and kidney problems. New or unusual symptoms deserve prompt attention because they may need targeted treatment.

The inherited condition cannot be prevented after birth, but many triggers and complications can be addressed. Infection prevention, adequate fluids, recommended vaccines and early care for fever are practical safeguards. Carrier testing can help prospective parents understand how the condition may be passed on.

A haematologist usually guides long-term care, with GP support for routine health needs. Seek emergency care for severe pain that is not settling, fever, chest symptoms, sudden weakness or confusion. Tell all clinicians about sickle cell disease before a procedure or new medicine is prescribed.