World Sickle Cell Day is celebrated annually on June 19th with the aim of increasing public awareness regarding the disease. This year’s theme for World Sickle Cell Day is ‘Building and Strengthening Global Sickle Cell Communities, Formalising Newborn Screening, and Knowing Your Sickle Cell Disease Status’. Early recognition of the disease and knowing one’s accurate disease status through testing can help optimize care and avoid many of the complications associated with this condition. We reached out to Dr Monisha Harimadhavan, Consultant, Dept. of Hematology and Bone Marrow Transplantation, Amrita Hospital, Kochi to understand the significance of this day and why awareness is crucial.
What is sickle cell disease?
Sickle cell disease (SCD) is a genetic disorder affecting the red blood cells that results from the production of abnormal hemoglobin. Haemoglobin, a protein present in red blood cells, performs the function of transporting oxygen throughout the body. The defective hemoglobin molecules in sickle cell disease cause red blood cells to become rigid and sickle-shaped instead of their normal disc shape. These abnormally shaped cells can get stuck during their passage in the small blood vessels, causing blockages in the blood flow. This manifests as various problems.
The most common symptoms are:
- severe pain episodes, which can occur in different body parts
- jaundice due to increased destruction of the abnormally shaped red cells
- anemia due to decreased hemoglobin, which produces fatigue and breathlessness
- the requirement for regular blood transfusions
- increased susceptibility to infections
- delayed growth and development in children
- organ damage
Affected individuals can have varying symptom severity, from asymptomatic to mildly symptomatic sickle cell trait to the most severe sickle cell anemia. Sickle cell disease can also coexist with other genetic disorders affecting hemoglobin, such as thalassemia, HbE disease, HbD disease, and HbC disease. The treatment focuses on pain management, blood transfusions, medications such as hydroxyurea, and other supportive measures. Curative options include bone marrow transplants and gene therapy.
Also Read: Government To launch A Mission To Eliminate Sickle Cell Anaemia By 2047
Importance of sickle cell disease diagnosis
Newborn screening initiatives in communities known to have a high prevalence of sickle cell disease can help with early disease diagnosis and early disease treatment, including curative options like bone marrow transplantation. Optimized treatment can reduce the costs and time spent on treatment by the family and avoid other social issues faced by the children and their families, like missing school days, having to compromise on their extracurricular activities, and losing work days. This day functions to increase an understanding of the disease among the at-risk population and for the general public to appreciate the day-to-day difficulties experienced by patients and their families and carers.