Sickle cell disease is the name for a group of inherited health conditions that affect the red blood cells. The most serious type is called sickle cell anaemia.
The disorder mostly affects people of African or African-Caribbean origin, although the sickle gene is found in all ethnic groups.
The condition arises from a genetic defect that alters the structure of haemoglobin, the oxygen-carrying protein found in red blood cells.
The modified haemoglobin causes normally round red blood cells to become stiff, sticky, and sickle-shaped. The deformed cells can block blood flow, causing severe pain, organ damage, and stroke.
Causes of Sickle Cell Disease
Sickle cell disease is caused by a gene that affects how red blood cells develop.
If both parents have the gene, there’s a 1 in 4 chance of each child they have being born with sickle cell disease.
The child’s parents often will not have sickle cell disease themselves and they’re only carriers of the sickle cell trait.
Treatments for Sickle Cell Disease
A number of treatments for sickle cell disease are available.
- Drinking plenty of fluids and staying warm to prevent painful episodes
- Painkillers, such as paracetamol or ibuprofen (sometimes treatment with stronger painkillers in the hospital may be necessary)
- Daily antibiotics and having regular vaccinations to reduce your chances of getting an infection
- A medicine called hydroxycarbamide (hydroxyurea) to reduce symptoms
- Regular blood transfusions if symptoms continue or get worse, or there are signs of damage caused by sickle cell disease
- An emergency blood transfusion if severe anaemia develops
The only cure for sickle cell disease is a stem cell or bone marrow transplant.
Some children with the disease have been successfully treated with cord blood stem cell, or bone marrow, transplants.
This approach, though, was thought to be too toxic for use in adults.
High doses of chemotherapy are used to destroy all of a child’s bone marrow, which is then replaced with marrow from a donor or cord blood held in a private cord blood bank or by donation.
Stem cell recipients typically need to take immunosuppressants for months to a few years. These medications can cause serious side effects.