Sickle Cell Disease (SCD) occurs when a genetic defect causes the body’s oxygen-transporting red blood cells to take on the shape of crescents or sickles. This can block blood-flow and cause extended bouts of severe pain and organ-damage.
According to medical statistics, 1 in 10 Bahrainis carry the abnormal sickle cell gene. This means that, annually, more than 200 Bahraini babies with SCD will likely be born. As well as in Bahrain, this disease is also common in other Middle-Eastern countries, the Indian subcontinent and sub-Saharan Africa.
Given that September is Sickle Cell Disease Awareness Month, this is a good time to shine a spotlight on one of the world’s most common genetic diseases.
Causes
Sufferers of the disease are born with two defective sickle cell genes—one from each parent. Alternatively, if someone is born with just one defective gene, it means they have inherited the condition, Sickle Cell Trait (SCT). People with SCT are generally healthy, but they can pass the defective gene on to their children. If both parents have SCT, there is one in four chance that their child will be born with the disease.
Diagnosis
A blood test can show the presence of either the disease or the trait. People who are contemplating having children should have the test to find out how likely it is that their children will inherit SCD. As part of a screening program, Bahrain tests all newborns for the defective gene. Doctors can also diagnose SCD before the baby is born using a sample from the amniotic fluid or placenta. The latter test is recommended if both parents have one or two sickle cell genes.
Symptoms
People with SCD show signs of the disease several months after birth. Most of the symptoms— which include severe pain, anaemia, organ damage, and infections—are caused by insufficient oxygen reaching the organs. Strokes, lung damage, and blindness can occur more frequently in SCD than in people without the defective gene. Lung-damage is a leading cause of death in SCD patients.
Treatment
The only cure for SCD is bone marrow transplantation—a procedure which takes blood-forming cells from a healthy person (usually a sibling) before transferring it to the patient. This procedure can have serious side effects, and hence is offered only to children or adults with severe SCD. Newer treatments, such as gene-therapy which help correct the defective gene, are also now being tested successfully.
Other symptom-reducing treatments include a drug called Hydroxyurea, which decreases the number of severe pain episodes experienced by patients by about 50%. Patients with severe complications, such as stroke, may need regular monthly blood transfusions to prevent further complications.
Pregnancy
It is possible for women with SCD to have a normal pregnancy but, in order to prevent complications such as pre-term labour, they must be monitored regularly by their obstetrician and haematologist.
Prevention
Consanguinity (marrying close blood relatives) is a leading cause of SCD. In Bahrain, the marriage rate between cousins used to be around 40% (1990 data), but campaigns by the health ministry to educate the public about the risks of consanguinity have led to a decrease in this practice.
Tips for SCD sufferers
1.Search for a doctor who is trained in treating SCD, as knowledge of this disease may not be optimal among general practitioners. Always keep a record of your medical history; this will be helpful in educating healthcare providers who may be unfamiliar with SCD. Pain management is a crucial part of treatment, so make sure your health practitioner is comfortable with prescribing and adjusting pain medications, especially narcotics. If this is not the case, request a referral to a doctor with expertise in treating this disease.
2. Make sure to get regular medical care, live a healthy lifestyle, and avoid situations (such as vigorous physical activity, severe stress, dehydration or extreme temperatures) that may set off a pain crisis. Ensure your diet is healthy and drink at least eight glasses of water a day. Take your medicines regularly.
3. Get regular check-ups once every two to three months. Make sure your vaccinations are up to date and, in order to prevent infection, practise regular hand-hygiene. Stay active and find a support group comprising other sickle cell sufferers in order to stay abreast of the latest trends in SCD.
Dr. Shruti Prem Sudha
Consultant Hematologist
Bahrain Specialist Hospital
Email: [email protected]
