Jahnavi Sarma
... Read More
By clicking “Accept All Cookies”, you agree to the storing of cookies on your device to enhance site navigation, analyze site usage, and assist in our marketing efforts. Cookie Policy.
Written By: Jahnavi Sarma | Updated : June 19, 2022 12:31 PM IST
world blood donation day
Sickle cell disease is a genetic disorder. It is basically a group of blood diseases that affects red blood cells and haemoglobin. The red blood cells in people who have this condition take on the shape of a sickle and hence the name sickle cell disease. In 2008, the United Nations General Assembly recognised this disease as a public health concern and June 19 was designated as World Sickle Cell day. Since then, countries across the world commemorate this day with events and activities with the purpose of creating awareness of this disease among the general public. It is unfortunate that even today, many people across the world are unaware about what exactly this condition is.
To get a proper understanding of this disease, we reached out to Dr. Rabindra Kumar Jena, HOD Hematology-SCB Medical College & Hospital, Bhubaneshwar. Dr Jena shares his inputs here.
Q. What is sickle cell disease? What are its causes?
Dr Jena: Sickle cell disease (SCD) is a genetic blood disorder characterized by sickle-shaped red blood cells. People with this disease have abnormal haemoglobin levels which cause the RBCs to become rigid and deform into a sickle or crescent shape.
Sickle cell is a condition that is caused by inheriting the sickle cell gene. A child usually gets inflicted with SCD when both its mother and father are carriers- also known as sickle cell trait- and the child receives two genes, one from each parent. If only one parent passes on the sickle cell trait to their child, the child will have the trait and not the disease itself. However, since they are disease carriers, they can pass on the gene to their children.
Q. What are some of the complications associated with this disease? How can one deal with them?
Dr Jena: A patient suffering from SCD deals with multiple episodes of pain crises, the intensity, and frequency of which may vary. Some of the common complications are
Many of the complications associated with sickle cell disease must be addressed as they arise. However, there are several things you can do to make them less likely. Some medications help people avoid problems or reduce their severity.
Q. How important is a timely diagnosis in the management of SCD? How is it diagnosed?
Dr Jena: Timely diagnosis is a critical aspect of SCD management. A delayed diagnosis leads to delayed treatment. This significantly impacts patients' quality of life. A timely diagnosis ensures that the disease does not reach an advanced stage and that the patient most likely receives appropriate treatment. This, then, results in normal life expectancy and enhanced life quality.
Sickle cell disease is usually diagnosed by taking blood samples. A technique called hemoglobin electrophoresis or high-performance liquid chromatography is used wherein the different types of hemoglobin in red blood cells are measured to identify the abnormal hemoglobin that causes sickle cell anemia.
Q. Can SCD be cured? How can it be treated?
Dr Jena: In most cases, SCD is managed with hydroxyurea which reduces the frequency of pain episodes, and blood transfusions. Currently, stem cell transplantation is the only therapeutic option available (a procedure where the patient receives stem cells to help the bone marrow produce healthy blood cells). However, this also comes with its challenges- the most common being the inability to find a donor.
There is an urgent need to come up with a comprehensive set of interventions for the management of SCD while also making room for disruptive innovative practices.
Q. What are the warning signs of SCD? Can this condition be prevented?
Dr Jena: Anaemia, periods of pain, swelling of hands and feet, recurrent infections, delayed growth and puberty, and eyesight issues are some of the early indications and symptoms of SCD.
Since SCD is a genetic disorder, the best way to ensure its prevention is through prenatal screening which can be done by a simple blood test.
Q. What can be done to create awareness about this disease among patients?
Dr Jena: Awareness needs to be created around this condition not only among patients but also among healthcare professionals. Patients need to be made aware of the disease itself, screening, and treatment options. Healthcare practitioners, especially in rural areas, need to be educated and skilled so that they can identify and timely diagnose this condition in patients. While there are some measures already being taken, we need more awareness programs to be undertaken by the government. At a community level, platforms like ASHA workers, Nukkad Nataks, etc. can be leveraged to create awareness.
