Understanding sickle cell causes, symptoms, diagnosis and treatment options
By Katemarthason Okudo, June 17, 2026Sickle cell disease is a long-term inherited blood disorder that affects the shape and function of red blood cells. Normally, red blood cells are round and flexible, allowing them to move easily through blood vessels and deliver oxygen across the body.
According to the World Health Organization, people with sickle cell disease have a genetic change that affects haemoglobin, the protein responsible for carrying oxygen. This makes the red blood cells become stiff, sticky, and shaped like a sickle or crescent.
Because of this abnormal shape, the cells can block blood flow and break down more quickly than normal cells, leading to chronic anaemia and repeated health complications.
Causes of Sickle Cell disease
The condition is caused by a mutation in a gene inherited from both parents. If a child receives the sickle cell gene from both parents, they develop the disease. If they inherit the gene from only one parent, they become a carrier, meaning they usually do not show symptoms but can pass the gene to their children.
According to Centers for Disease Control and Prevention this inherited genetic pattern explains why sickle cell disease is more common in certain populations where the gene has historically provided some protection against malaria.
Signs and symptoms
Sickle cell disease often becomes noticeable in early childhood when haemoglobin changes from foetal to adult forms. One of the most common features is painful episodes known as sickle cell crises, which occur when blocked blood flow reduces oxygen supply to tissues.
Individuals may also experience constant tiredness due to anaemia, frequent infections because of a weakened spleen, and swelling in the hands and feet caused by poor circulation. In some cases, complications affect the eyes, lungs, or brain, leading to more serious health risks such as vision loss, acute chest pain, or stroke-like symptoms.
Risk factors
The main risk factor is having both parents who carry the sickle cell gene. The condition is more prevalent among people of African, Middle Eastern, Mediterranean and South Asian ancestry.
Environmental and lifestyle factors do not cause the disease, but they can worsen symptoms. Dehydration, infections, extreme temperatures and physical stress can trigger painful crises or other complications in people already living with the condition.
Diagnosis and tests
Sickle cell disease is diagnosed through blood tests that identify abnormal haemoglobin. In many countries, newborn screening is done shortly after birth to detect the condition early, even before symptoms appear. According to National Heart, Lung, and Blood Institute a confirmatory test known as haemoglobin electrophoresis is used to determine the type of sickle cell disorder a person has.
This helps doctors understand how severe the condition may be and plan long-term care.
Management and treatment
Although there is no widely available universal cure, treatment focuses on reducing symptoms and preventing complications. Pain during crises is managed with medication, hydration and sometimes hospital care. Regular blood transfusions may be used to increase healthy red blood cells and improve oxygen flow.
Antibiotics help prevent infections, especially in children, while folic acid supports red blood cell production. In severe cases, a bone marrow or stem cell transplant may offer a potential cure, but it requires a suitable donor and carries significant risks.
Prevention and cure
Sickle cell disease itself cannot be prevented because it is inherited genetically. However, genetic counselling plays an important role in helping families understand the risk of passing the condition to their children.
Early diagnosis through screening and consistent medical care greatly improves quality of life and reduces complications. While a complete cure is rare, stem cell transplantation has successfully cured some patients, making it the closest available option to a permanent solution.
Health experts continue to emphasise early detection and proper management. With appropriate care, many people with sickle cell disease can live longer and more active lives.