Sickle cell disease
An inherited disorder in which an abnormal haemoglobin makes red cells stiffen into a sickle shape. These cells break down early and block small blood vessels, causing anaemia and episodes of severe pain, and needing lifelong specialist care.
What it is
Sickle cell disease is an inherited condition caused by an abnormal form of haemoglobin, haemoglobin S. When oxygen levels fall, this abnormal haemoglobin makes red blood cells rigid and curved like a sickle, instead of soft and round. These sickled cells cause two main problems: they are fragile and break down early, producing a chronic anaemia (a form of haemolytic anaemia), and they are sticky and stiff, so they can clog small blood vessels and cut off blood supply to tissues. Blocked vessels cause 'crises' — episodes of severe pain, often in the bones, chest or abdomen — and, over time, damage to organs including the spleen, kidneys, lungs and brain. People with sickle cell disease are also more prone to serious infections. The disease is present from birth (it is picked up on newborn screening in many countries) and is most common in people of African, Caribbean, Middle Eastern, Mediterranean and Indian origin. It occurs when a child inherits the sickle gene from both parents; inheriting one copy gives the usually harmless sickle cell trait. Management is lifelong and specialist-led, including preventing crises and infections, treating pain, and, for some, medicines or transfusions and — potentially curative — a stem-cell transplant.
Key lab markers
- Hemoglobin electrophoresis — the diagnostic test; shows haemoglobin S and confirms the disease or trait.
- Full blood count — a chronic anaemia; often a raised white cell count.
- Reticulocytes — high, reflecting the marrow's response to ongoing red-cell destruction.
- Bilirubin and LDH — raised, and haptoglobin low, from haemolysis.
- Newborn screening — detects it at birth in many countries.
Symptoms
- Episodes of severe pain (crises) in bones, chest or abdomen
- Tiredness and pallor from chronic anaemia
- Jaundice
- Frequent or serious infections
- Swelling of hands and feet in young children
- Over time, complications affecting many organs
Related lab panels
When to discuss with a doctor
Sickle cell disease is a serious, lifelong condition managed by specialists, and some situations are emergencies: a severe pain crisis, a high fever (which can signal a dangerous infection), sudden breathlessness or chest pain, a sudden worsening of anaemia, or neurological symptoms such as weakness or difficulty speaking all need urgent medical care. Ongoing care focuses on preventing crises and infections (including vaccinations and, often, daily antibiotics in childhood), staying well hydrated, and specific treatments. Because it is inherited, knowing sickle cell trait status matters for family planning, and screening is offered in pregnancy and to newborns. Mediora.AI can show the anaemia and haemolysis pattern and flag haemoglobin S on electrophoresis, but sickle cell disease is diagnosed and managed within specialist care, and its acute crises are medical emergencies.