What should you know about homozygous sickle cell disease?

It happens when a person inherits a sickle cell gene from each parent. The altered cells can break down sooner than usual and may block small blood vessels, reducing oxygen delivery to tissues.

Symptoms and their pattern differ between people. Pain can occur when blood flow is obstructed, including in bones or joints. Tiredness, breathlessness with activity, headaches, yellowing of the eyes or skin, and pale skin can occur when anaemia is present.

A pain episode can be severe even when there is no visible injury. Fever needs prompt attention because infections may become serious quickly in people with sickle cell disease.

Regular follow-up with a clinician familiar with sickle cell care helps you plan for pain, infection prevention, medicines, vaccinations, travel and pregnancy. Blood tests may be used to monitor anaemia and other changes over time.

Keep well hydrated, avoid becoming very cold or overheated, and seek individual advice before demanding exercise or high-altitude travel. Tell healthcare professionals about the condition before any procedure or new medicine.

Seek urgent assessment for fever, chest pain, trouble breathing, a new severe headache, weakness on one side of the body, confusion, fainting, or pain that is severe or not responding to your agreed care plan.

Urgent care is also needed for a painful prolonged erection, sudden abdominal swelling, marked drowsiness, or a rapid change from your usual health. Do not wait for a routine appointment if these symptoms develop.

Ask which symptoms mean you should contact the clinic or attend urgent care, what your personal pain plan should include, and which vaccines or preventive medicines are appropriate for you.

You can also ask whether genetic counselling, family testing, or premarital screening would be useful, and how to prepare safely for travel, surgery, pregnancy or dental treatment.