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Although sickle cell disease (SCD) is present from birth, most patients do not begin to show signs of the condition until after the age of 4 to 6 months. For this reason, many countries use a blood test of newborn babies to screen for the presence of the condition and enable earlier interventions.
In the beginning, affected patients may experience symptoms such as:
The presenting signs are different in each individual, however, according to the severity of the condition and the internal effects.
Children do not usually experience serious pain but as patients get older, painful episodes called a sickle crisis that can last for a few hours or up to a few days become more common. These crises are characteristic of the condition and involve debilitating pain in various parts of the body such as the lower back, legs, arms, joints and chest.
The crises are thought to occur due to a disruption in blood flow caused by the rigid haemoglobin in the red blood cells. An attack is more likely to occur when the patient has recently been affected by illness, temperature changes, stress, dehydration or altitude changes. However, the trigger of the crisis is not always clear.
The frequency of episodes can vary greatly among individuals with the condition; some are affected rarely with a single episode every few years whereas others have severe crises several times each year.
Sickle cell disease is associated with changes in the haemoglobin and red blood cells in the body. In particular, the defected cells have a considerable shorter lifespan than other red blood cells, which can lead to a deficient in these cells and symptoms of anaemia.
The symptoms may include:
In some cases, the rigidity of the defected haemoglobin cells can cause them to become lodged in the blood vessels and disrupt the flow of blood around the body. This can lead to symptoms such as:
Over time, some patients may be affected by symptoms, as a result of organs that do not continue to function as required. For example, the spleen stops working properly in some patients, leading to greater susceptibility to infections, including:
As a result of the wide effects of defected red blood cells, there are various other symptoms that may occur in some patients. These may include:
There are many complication of sickle cell disease that patients are more likely to experience as a result of the condition. Some of these have fatal potential and account for the lower life expectancy than other populations, which is currently at approximately 40 to 60 years in most developed countries.
However, the treatments to manage symptoms and prolong lifespan are continually improving and have already helped to improve the quality of life and symptoms experienced by those with the disease.