Excruciating pain, drinking a lot of water, frequent hospital admissions, breaks from school or work and dealing with many restrictions to a normal life forms the perception of sickle cell for most of us. While these are present in many cases, the truth is that with adequate care, people living with sickle cell do lead wholesome and fulfilled lives. World Sickle Cell Day was first marked on June 19th 2009 after being recognized in December 2008 by the United Nations General Assembly as a disease of public health concern.
Sickle cell is a chronic condition commonly found in people of African, Mediterranean , Middle East and Indian descent. It is a group of disorders in which the biconcave red blood cell structure (picture the Trebor sweets of your childhood) is distorted into a sickle shape (like the sickle used in farms , crescent or the curve of a question mark). The biconcave structure of normal cells make them flexible to navigate smaller vessels. The distortion affects the ability of these cells to carry oxygen to different parts of the body leading to them being deprived. The abnormal shape makes the cells rigid and unable to navigate small blood vessels in the circulatory system. This gives rise to the joint and other severe pains experienced by sickle cell patients.
The molecule , haemoglobin is the part of the red blood cell that carries oxygen. Sickle cell disease is caused by a genetic mutation which gives rise to Haemogblobin S or Haemoglobin C. The expression of the heamoglobin types make up the genotype of a person. Examples of geneotypes are AA, AS, AC, SC or SS. Sickle cell genotypes are SC and SS. AS and AC are carriers.
A child has sickle when she inherits the S or C gene from both parents.
Signs and Symptoms
These begin to show in early childhood and range from mild to severe among people affected. In most cases, the recurrent bouts of illness is often the first time the child’s genotype is identified. This can be especially traumatic for children who may not be able to express their feelings clearly. The younger ones among them are irritable – cry incessantly due to pain. Episodes of pain and other symptoms are also known as sickle cell crisis.
The sickled cells break down faster than normal red blood cells leading to anaemia. Anaemia in turn leads to breathlessness, weakness in addition to slowed growth and development in Nigeria.
Because the tissues of the body’s organs are starved of oxygen, they begin to show signs of damage. Among these complications are vision loss, bone degeneration, kidney damage, heart failure and poorly healing wounds on the legs (leg ulcers). If left untreated some of these complications can lead to death.
Sickle cell can be suspected from the symptoms above but it is confirmed with genotype and other other clinical tests.
Water – a cardinal part of managing this disease is for the patient to drink or be infused with adequate amounts of water. Sometimes, up to 3 litres per day. This aids circulation and helps reduce the joint pain.
Medication – Sickle cell patients take medication daily to prevent malaria, keep up their vitamin levels. This prolongs the life of the red blood cells and helps new ones to form. However, iron supplements does not help patients with sickle cell as the anaemia found in them is not due to a deficiency of iron. Antibiotics are given to clear existing infections. Hydroxyurea has been shown to improve symptoms significantly in sickle cell. This is usually prescribed by doctors experienced in the treatment of sickle cell. Since severe please (crisis) is often what brings most patients to the hospital analgesics are a major part of the treatment.
Blood transfusion is given to patients whose anaemia is severe to increase their blood levels. This is usually done in severe cases to save their lives.
Hip and other replacement surgery in case of fractures due to bone degeneration.
Recurrent cases are managed by haematologists who are medical experts in blood disorders. With adequate and timely treatment, many sickle cell patients lead fairly normal lives.
Sickle cell can be cured with stem cell or bone marrow transplant. This option remains inaccessible to most patients due to the high cost, the challenges of securing a matching donor and risk involved. However, many survivors have been cured with this procedure.
People with AS, AC , SC and SS genotypes are advised to marry those with AA genotype. This prevents the incidence of their child having the disease. In many marriage registries and even religious bodies, a genotype test and counselling is increasingly becoming one of the criteria for the intending couples.
Growing Stronger With Sickle Cell
Adequate hydration as explained above reduces the frequency of crisis. Also, keeping warm in cold weather helps to prevent the joint pain and chest pain which is worsened by cold. Places or activities that lead to reduced oxygen levels should be avoided. These include high altitiudes and strenous activities. Improved hygiene helps to prevent infections and can be a lifesaving habit in this regard.
Counselling for patients and their carers is very important as the disease can take a toll on mental health. This helps them choose a healthy diet, regular water intake and practise all the the coping mechanisms above. Support groups have also been very helpful in helping patients stay strong.
For decades, we have had people with sickle cell attaining great heights in different fields of human endeavour. We must continue efforts to ensure that less children with sickle cell are born by ensuring genotype testing in couples. But for those who are living with the condition, practising these tips above helps them to lead normal lives.
Written by Dr Mariam Toye (@TheMariamToye on Twitter)