Sickle Cell Disease

• It is a blood disorder that arises when both parents have the problem gene and pass it on to their child.
• If only one parent has the problem gene, then the child will not have symptoms but will have the gene called the ‘sickle cell trait’.

• With sickle cell disease, the red blood cells have an abnormal crescent shape, taking the shape of a sickle, hence, its name.
• The sickle shape results in the red blood cells becoming rigid and sticky, getting stuck in the smaller blood vessels as they circulate in the body.
• This disrupts the supply of oxygen to parts of the body and results in symptoms such as anemia, episodes of pain due to bone and joint damage, swelling in the extremities, increased risk of infections, hampering of normal growth, and problems with the vision.

• In India, it is more common in south Gujarat, north Maharashtra, Madhya Pradesh, Chhattisgarh, and western Odisha with a smaller concentration in the southern regions in India.

• In 2008, the UN General Assembly recognized it as a public health problem and “one of the world’s foremost genetic diseases”.
• World Sickle Cell Day is observed on 19th June each year to raise awareness of sickle cell at a national and international level.

Sickle cell disease

• Sickle cell disease is a group of disorders that affects haemoglobin, the molecule in red blood cells that delivers oxygen to cells throughout the body.
• People with this disorder have atypical haemoglobin molecules called haemoglobin S, which can distort red blood cells into a sickle, or crescent, shape.
• Signs and symptoms of sickle cell disease usually begin in early childhood.
• Characteristic features of this disorder include a low number of red blood cells (anemia), repeated infections, and periodic episodes of pain.
• The severity of symptoms varies from person to person.
• Some people have mild symptoms, while others are frequently hospitalized for more serious complications.
• The signs and symptoms of sickle cell disease are caused by the sickling of red blood cells.
• When red blood cells sickle, they break down prematurely, which can lead to anaemia.
• Anaemia can cause shortness of breath, fatigue, and delayed growth and development in children.
• The rapid breakdown of red blood cells may also cause yellowing of the eyes and skin, which are signs of jaundice.
• Painful episodes can occur when sickled red blood cells, which are stiff and inflexible, get stuck in small blood vessels.
• These episodes deprive tissues and organs of oxygen-rich blood and can lead to organ damage, especially in the lungs, kidneys, spleen, and brain.
• A particularly serious complication of sickle cell disease is high blood pressure in the blood vessels that supply the lungs (pulmonary hypertension).
• Pulmonary hypertension occurs in about one-third of adults with sickle cell disease and can lead to heart failure.
• Sickle cell disease (SCD) which is the most prevalent inherited blood disorder, is widespread amongst many tribal population groups in India, posing a considerable health burden in several states.