In view of the world sickle-cell awareness day commemorated every 19th of June, it is important to get to refresh our knowledge on sickle cell disease and it complications.
The theme for this year is – Shine the Light on Sickle Cell
The goal to increase public knowledge and an understanding of sickle cell disease, and the challenges experienced by patients and their families and caregivers
Sickle cell disease (SCD) are a group of inherited disorders which affect the red blood cells. It is a genetic condition, which means it is passed on from parents to offspring.
Sickle cell disorders causes normally round and flexible blood cells to become stiff and sickle shaped, stopping the blood cells, and the oxygen they carry, from being able to move freely around the body and causing pain.
This can cause episodes of severe pain and many other complications. These painful episodes are referred to as sickle cell crisis and can be excruciating and unbearable.
People with sickle cell are also at risk of complications such as infection, stroke, acute chest syndrome, blindness, bone damage, priapism (a persistent, painful erection of the penis), leg ulcers, pulmonary hypertension, and other complications.
Treatment of sickle cell mostly focuses on preventing and treating complications. Adequate pre-marital counseling and medical evaluation is necessary for its prevention.
Types of disease
There are several types of sickle cell disease. The specific type a person has depends on the genes they inherited from their parents.
Examples are Haemoglobin SS (HbSS), Haemoglobin SC (HbSC), Haemoglobin beta thalassemia. Others are – Haemoglobin SD, SE, SO
There is also a sickle cell trait – Haemoglobin AS (HbAS).
In view of the world sickle-cell awareness day, of more concern is the Haemoglobin SS (HbSS)
Haemoglobin SS (HbSS) – This is the most severe form. Those who have this form of sickle cell disease inherit two sickle cell genes (“S”), one from each parent. It is called sickle cell anemia.
Diagnosis of sickle cell disease
Screening for sickle cell anemia is done with a simple blood test that detects the presence of the abnormal hemoglobin protein
Patients diagnosed with sickle cell anemia require frequent laboratory tests including blood and urine tests, in order to monitor them for complications like kidney problems or infections.
Patients may also receive a transcranial Doppler ultrasound screening (TCD) – a painless procedure that uses sound waves to examine blood flow in the brain. It let doctors assess the risk of stroke, and start treatments to reduce that risk
Treatment of complications
Treatment is varied depending on the complications experienced:
– pain medication to prevent or treat pain
– Hydration to prevent complications
– Folic acid to help to make new red blood cells
– Antibiotics to treat infections
– Vaccinations to prevent diseases that would be especially risky for those with sickle cell disease
– Blood transfusions to treat complications such as severe anemia and to help prevent stroke
– Bone marrow transplant for some patients with severe symptoms
Can it be cured?
The only cure for SCD is bone marrow or stem cell transplant.
Role of Genetic Counseling
Patients with sickle cell trait or parents of newborn babies diagnosed with sickle cell anemia or sickle cell trait are often referred to genetic counseling.
This helps prospective parents determine the probability of future children inheriting the disease, and helps them make fully informed reproductive decision