By Sola Ogundipe &  Chioma Obinna

Certainly, Sickle Cell   Disorder is a global health problem with psychosocial implications. Unfortunately, Nigeria has the largest population of people with sickle cell disorder, with about 150,000 births annually.  The incidence of sickle cell anaemia in Nigeria is among the highest in the world, with more than 100,000 Nigerian children being born each year with the disorder. Those with the disease suffer a higher than average frequency of illness and premature death, especially in infancy. The condition can also cause heart attacks, kidney failure, severe infections and sudden death.

Statistics available show that over 40 million Nigerians are carriers of the S gene. Indeed, this number far exceeds the total population of every other affected African country and several of them put together. In the views of Chairman National Sickle Cell Foundation, Nigeria, Prof. Olu Akinyanju: “This could be largely because carriers of the sickle cell gene (Hb AS) have over the past years, flourished and multiplied in tropical sub-Saharan Africa because their carrier status protected them from succumbing to the deadly falciparum malaria prevalent in the country.”

Despite the large number of people with sickle cell disorder, the Nigerian society in general still has a negative image of SCD, and reported negative perceptions and attitudes.

A study done on the “Psychosocial impact of sickle cell disorder: perspectives from a Nigerian setting” by Prof. Olu Akinyanju,  Anie KA and Egunjobi FE showed that depressive feelings were experienced in almost half the study population even though, feelings of anxiety or self-hate were uncommon.
Worse still, survival of Nigerian children beyond childhood is largely dependent on their access to appropriate care and because most of them are born into poor under-privileged families, very few of them survive childhood. Thanks to Sickle Cell Foundation as the survival of children with access to good care, at all ages, is steadily improving although many challenges to their quality of lives and life spans still remain. But the increasing awareness has not been matched by the development of a well-resourced national policy. This has curtailed the dissemination of accurate and unbiased public information and education about the disorder.
According to the Prof Akinyanju, low level of awareness on SCD with a birth rate of one in 50 babies is fueling the growth of myths, misinformation, inappropriate treatment, frustration and stigmatisation. The reason is that the affected children rarely survived childhood, and were, therefore, less likely to be encountered in secondary schools, universities and in the workplace.

Even with the two per cent birth incidence, the estimated population of SCD-affected persons in Nigeria is about one million, owing to a high rate of premature deaths.
However, having sickle cell disease means a lifelong battle against the health problems it can cause, such as pain, infections, anemia, and stroke. But many people are able to have a very good quality of life by learning to manage the disease. The sickling occurs because of a mutation in the haemoglobin gene. Life expectancy is shortened with studies reporting an average life expectancy of 42 for males and 48 years for females.

Sickle-cell disease, usually presents in childhood, occurs more commonly in people from parts of tropical and sub-tropical regions or where malaria is common.

About one-third of all indigenous inhabitants of sub-Saharan Africa carries the gene, because in areas where malaria is common, there is a survival value in carrying only a single sickle-cell gene or trait. Those with only one of the two alleles of the sickle-cell disease are more resistant to malaria, since the infestation of the malaria plasmodium is halted by the sickling of the cells which it infests.

Studies show that the sickle-cell gene causes the body to make abnormal haemoglobin, which is the iron-rich protein that gives blood its red colour and carries oxygen from the lungs to the rest of the body. The haemoglobin sticks together when it delivers oxygen to the body’s tissues. These clumps of haemoglobin are like liquid fibres. They cause the red blood cells to become stiff and shaped like a sickle, which tends to stick together and get caught in the blood vessels. While two copies of the sickle-cell gene are needed for the body to make the abnormal haemoglobin found in sickle cell anaemia.
Clinically, if only one copy of the sickle-cell gene is inherited from one parent, the person will not have sickle-cell anaemia, but sickle cell trait. People who have sickle-cell trait usually have no symptoms and live normally. However, they can pass the sickle-cell gene to their children. When each parent has a normal gene and an abnormal gene, each child has 25 per cent chance of inheriting two normal genes; a 50 per cent chance of inheriting one normal gene and one abnormal gene; and a 25 per cent chance of inheriting two abnormal genes.

The most common signs and symptoms are linked to anaemia and pain while other signs and symptoms are linked to the disease’s complications. The pain from sickle-cell crisis can be acute or chronic, but acute pain is more common. Almost all people who have sickle-cell anaemia have painful crisis at some point in their lives.
According to experts, you can control some factors. For example, your risk for a sickle-cell crisis increases if you are dehydrated, when your body does not have enough fluid. Drinking plenty of fluids can lower your risk for a painful crisis.

Studies have shown that children who have sickle-cell anaemia often grow more slowly than other children, but they reach puberty later. A shortage of red blood cells causes the slow growth rate. While adults who have sickle-cell anaemia often are slender or smaller in size than other adults.

Sickle-cells can also clog the small blood vessels that deliver oxygen-rich blood to the eyes. This can damage the retinas-thin layers of tissue at the back of the eyes. The retinas take the images you see and send them to your brain. Without enough blood, the retinas will weaken. This can cause serious problems, including blindness.

Overview of sickle cell

Sickle cell anemia is an inherited form of anemia — a condition in which there are not enough healthy red blood cells to carry adequate oxygen throughout your body.

Normally, your red blood cells are flexible and round, moving easily through your blood vessels. In sickle cell anaemia, the red blood cells become rigid, sticky and are shaped like sickles or crescent moons. These irregularly shaped cells can get stuck in small blood vessels, which can slow or block blood flow and oxygen to parts of the body.

There is no cure for most people with sickle cell anemia. However, treatments can relieve pain and help prevent further problems associated with sickle cell anemia.

Symptoms
Signs and symptoms of sickle cell anemia usually show up after an infant is four  months old and may include: Anemia: They break apart easily and die, leaving you chronically short on red blood cells. Red blood cells usually live for about 120 days before they die and need to be replaced. Sickle cells die after only 10 to 20 days.

* Periodic episodes of pain.
* Hand-foot syndrome: Swollen hands and feet are usually the first signs of sickle cell anemia in babies.
* Jaundice: Jaundice occurs because of liver damage or dysfunction.
* Frequent infections: Sickle cells can damage your spleen, an organ that fights infection.
* Delayed growth: Red blood cells provide your body with the oxygen and nutrients you need for growth.
* Vision problems: Some people with sickle cell anemia experience vision problems.

Causes
Sickle cell anemia is caused by a mutation in the gene that tells your body to make hemoglobin — the red, iron-rich compound that gives blood its red colour. With each pregnancy, two people with sickle cell traits have:  * A 25 per cent chance of having an unaffected child with normal hemoglobin, a 50 per cent chance of having a child who also is a carrier and a 25 per cent chance of having a child with sickle cell anemia

Risk factors
The risk of inheriting sickle cell anemia comes down to genetics. For a baby to be born with sickle cell anemia, both parents must carry a sickle cell gene.

Complications
Sickle cell anemia can lead to a host of complications, including: Stroke: Stroke is one of the most serious complications of sickle cell anemia.
* Acute chest syndrome: This life-threatening complication of sickle cell anemia causes chest pain, fever and difficulty breathing.
* Organ damage: Sickle cells can block blood flow through blood vessels, immediately depriving an organ of blood and oxygen.
* Blindness: Tiny blood vessels that supply your eyes can get blocked by sickle cells.
* Skin ulcers: Sickle cell anemia can cause open sores, called ulcers, on your legs.
* Gallstones: The breakdown of red blood cells produces a substance called bilirubin. Bilirubin is responsible for yellowing of the skin and eyes (jaundice) in people with sickle cell anemia. A high level of bilirubin in your body can also lead to gallstones.
* Priapism. Men with sickle cell anemia may experience painful erections

Risk factors
The risk of inheriting sickle cell anemia comes down to genetics. For a baby to be born with sickle cell anemia, both parents must carry a sickle cell gene.
Tests and diagnosis

A blood test can check for hemoglobin S — the defective form of hemoglobin that underlies sickle cell anemia. Additional tests to confirm any diagnosis, a sample of blood is examined under a microscope to check for large numbers of sickle cells — a marker of the disease.
Treatments and drugs

Bone marrow transplant offers the only potential cure for sickle cell anemia. But, finding a donor is difficult and the procedure has serious risks associated with it, including death. As a result, treatment for sickle cell anemia is usually aimed at avoiding crises, relieving symptoms and preventing complications. If you have sickle cell anemia, you will need to make regular visits to your doctor to check your red blood cell count and monitor your health. Treatments may include medications to reduce pain and prevent complications, blood transfusions and supplemental oxygen, as well as bone marrow transplant.

Medications
Medications used to treat sickle cell anemia include: Antibiotics. Children with sickle cell anemia usually begin taking the antibiotic penicillin when they are about two months of age and continue taking it until they are five to prevent infections, such as pneumonia, which can be life-threatening to an infant or child with sickle cell anemia.
* Pain-relieving medications.
* Hydroxyurea (Droxia, Hydrea). This prescription used to treat cancer, may be helpful for adults with severe disease.
* Blood transfusions: In a red blood cell transfusion, red blood cells are removed from a supply of donated blood. These donated cells are then given intravenously to a person with sickle cell anemia.
* Supplemental oxygen: Breathing supplemental oxygen through a breathing mask adds oxygen to your blood and helps you breathe easier.
* Bone marrow transplant: This procedure replaces bone marrow affected by sickle cell anemia with healthy bone marrow from a donor who doesn’t have the disease. It can be a cure, but the procedure is risky, and it is difficult to find suitable donors.

Lifestyle and home remedies
Taking steps to stay healthy is critical for anyone with sickle cell anemia. Eating well, getting adequate rest and protecting yourself from infections are good ways to maintain your health and prevent crises. Infants and children with sickle cell disease need to receive regular childhood vaccinations. Children and adults with sickle cell anemia also should have a yearly flu shot and be immunized against pneumonia.
If you or your child has sickle cell anemia, follow these suggestions to help stay healthy:
* Take folic acid supplements daily, and eat a balanced diet. Bone marrow needs folic acid and other vitamins to make new red blood cells.
* Drink plenty of water. Staying hydrated helps keep your blood diluted, which reduces the chance that sickle cells will form.
* Avoid temperature extremes. Exposure to extreme heat or cold can trigger the formation of sickle cells.
* Reduce stress. A sickle crisis can occur as a result of stress.
* Exercise regularly, but don’t overdo it.
* Use over-the-counter medications with caution.
* Fly on airplanes with pressurised cabins. Unpressurised aircraft cabins may not provide enough oxygen. Low oxygen levels can trigger a sickle crisis.
* Avoid high-altitude areas. Travelling to a high-altitude area may also trigger a crisis because of lower oxygen levels.

Prevention
If you carry the sickle cell trait, you may wish to see a genetic counsellor before trying to conceive a child. A genetic counsellor can help you understand your risk of having a child with sickle cell anemia. He or she can also explain possible treatments, preventive measures and reproductive options.
There is an in vitro fertilisation procedure that improves the chances for parents who both carry the sickle cell gene to have a child with normal hemoglobin. This procedure is known as preimplantation genetic diagnosis. First, eggs are taken from the mother. Then, sperm is taken from the father. In a laboratory, the eggs are fertilised with the sperm. The fertilised eggs are then tested for the presence of the sickle cell gene. Fertilised eggs free of the sickle cell gene can be implanted into the mother for normal development. However, this procedure is expensive and not always successful.

Frequently Asked Questions

Having sickle cell disease means a lifelong battle against the health problems it can cause, such as pain, infections, anemia, and stroke. But many people are able to have a very good quality of life by learning to manage the disease. Sickled cells can get stuck and block blood vessels, which stops the oxygen from getting through. That can cause a lot of pain. It can also harm organs, muscles, and bones.
What causes sickle cell disease?

Sickle cell disease is inherited, which means it is passed from parent to child. To get sickle cell disease, a child has to inherit two sickle cell genes -one from each parent. When a child inherits the gene from just one parent, that child has sickle cell trait. Having this trait means that you do not have the disease but you are a carrier and could pass the gene on to your children.
What are the symptoms?

Painful events are the most common symptom of sickle cell disease. They are periods of pain that happen when sickled cells get stuck in blood vessels and block the blood flow. These events usually cause pain in the hands, feet, belly, back, or chest. The pain may last for hours or for days.
People with sickle cell disease often have anemia, caused by a shortage of red blood cells. Anemia makes you feel weak and tired. People with sickle cell anemia may look pale or washed out. Their skin and the whites of their eyes may have a yellowish look (jaundice).

How is sickle cell disease diagnosed?

A simple blood test can show whether a person has sickle cell disease. Most states test for sickle cell disease before infants go home from the hospital.
How is it treated?

Early treatment includes daily antibiotics from two months to five years of age to help prevent infections. Routine childhood immunizations are also important.
Managing pain is often a big part of having sickle cell disease. You can prepare for a painful event ahead of time by creating a pain management plan with your doctor. The plan should include what you can do at home to relieve pain for yourself or your child. The plan should also tell you when it is best to call a doctor or go to a hospital. Some people need regular blood transfusions to lower the risk of stroke and treat anemia and other problems.
Regular checkups are an important part of life with this disease. People with sickle cell disease need a good working relationship with a doctor who is an expert in treating it.

How do you manage life with sickle cell disease?
* Learn what triggers, or sets off, painful events. Triggers often include cold temperatures, wind, dehydration, and too much exercise. Low oxygen caused by cigarette smoke, high altitude, and plane flights is another common trigger.
* Make sure that your child takes antibiotics regularly until age 5 to prevent infections. And make sure he or she receives all the usual immunisations on schedule.
* Your child can take part in normal school activities. Make sure that teachers understand your child’s special needs, like needing frequent drinks and bathroom trips and avoiding overexertion and cold temperatures.
* People with sickle cell disease and their families face ongoing stress. A support network can help ease stress and worry.