Sickle cell anemia : way forward

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Occurring as a result of mutation in the gene that tells the body to the make red iron-rich compound which gives blood it’s red colour ( haemoglobin), Sickle Cell gene is passed from generation to generation in a pattern of inheritance called “autosomal recessive inheritance”. Haemoglobin allows Red blood cell to carry oxygen from the lungs to all parts of the body. Normally the red blood cells are flexible and round, moving easily through your blood vessels but in Sickle Cell Anemia, the Red blood cells become rigid and sticky and are shaped like sickles or crescent moons as a result of the abnormal haemoglobin.

Symptoms
The signs and symptoms of Sickle Cell Area, which vary from person to person and change ;
-Aneamia: Red blood cells usually live for about 120 days before they need to be replaced but for sickle cells, red blood cells usually die in 10- 20 days leading to its shortage which will rid the body of adequate oxygen it needs to feel energized causing fatigue.
– Episodes of pain: periodic episodes of pain called ” crisis”, are a major symptom of Sickle cell anemia. The pain develops when sickle-shaped red blood cells block blood flow through tiny blood vessels to your chest, abdomen and joints. The pain varies in intensity and can last for few hours to a few weeks. Some people have only a few pain episodes, others have a dozen or more crises a year. if the crisis is severe enough, such person might need to be hospitalized.
-Painful swelling of hands and feet: the swelling is caused by sickle-shaped red blood cell blocking blood flow to the hands and feet.
– Frequent infections: sickle cell can damage the spleen which is the organ that helps fight infection, leaving such person more vulnerable to infections.
– Delayed growth: red blood cells provide the body with oxygen and nutrients one needs for growth. A shortage of healthy red blood cells can slow growth in infants and children and delay puberty in teenagers.
– Vision problems: tiny blood vessels that supply your eyes may become plugged with sickle cells. This can damage the retina which is the portion of the eye that process visual images leading to vision problems.

Complications

-Stroke: if the sickle cell blocks blood flow to an area of the brain, it can result to stroke leading to seizures, weakness or numbness of the arms and legs, sudden speech difficulties and loss of consciousness.

– Acute chest syndrome: chest pain, fever, difficulty breathing are some of the symptoms of this life threatening complication and it can be caused by lung infection or sickle cell blocking blood vessels in the lungs.

-organ damage: chronic deprivation of oxygen-rich blood can damage nerves and organs in the body including kidneys, liver, and spleen, this usually occur when the sickle cell block blood flow through the blood vessels immediately deprive the affected organ of blood and oxygen.

-Blindness: sickle cell can block the tiny blood vessel leading to the retina which can lead to blindness.

– Priapsm: men with sickle cell aneamia can have painful long-lasting erection which can damage the penis and lead to impotency, this is usually as a result of the blockage of the blood vessel by the sickle cell as it occurs in other parts of the body.

Prevention
If an individual carry the sickle cell trait, seeing a genetic counsellor will help when understand the risk of having a child with a partner who is also carrying the trait. Possible treatment and reproductive options can also be discussed.

Diagnosis
The sickle cell gene can be diagnosed with a blood test, in some countries it is part of the routine newborns test that will be carried out before being discharged from the hospital.
Sampling of some fluid surrounding the baby in the mothers womb can also be done to confirm if a foetus has sickle cell aneamia.

Treatments

– Bone marrow transplant which is also known as stem cell transplant, offers the only cure for sickle cell anemia. Due to the increased risk in people older than the age of 16, it is usually reserved for people younger and finding a donor might be difficult too. The procedure has serious risk in which death is included as a result, treatment is usually aimed at avoiding crisis, relieving symptoms and preventing complications.

Management
-Take Folic acid: bone marrow needs folic acid and other vitamins to produce more red blood cells.
– Drink plenty of water: dehydration can increase the risk of a sickle cell crisis, increase intake of water when one spend time in hot weather.
– Avoid extreme temperature : extreme hot or cold could increase the risk of a crisis.

When to see a doctor
– unexplained episodes of severe pain such as pain in the abdomen, chest, bones or joints.
– Swelling in hands or feet.
– Abdominal swelling, especially if the area is tender to touch.
– yellowing of the skin or white part of the eye.

The need to visit a pediatrician early once some of the above mentioned have been observed in a child is important so as to carry out necessary tests.

What to do
Once it has been confirmed a child has sickle cell anemia get such child registered at any sickle cell centre, most teaching hospital have one. The purpose of this is to ensure proper monitoring and management and to prevent complications as a result of the sickle cell aneamia.

Note: Confirming if you are carrier of the sickle cell gene is recommended for both partners before choosing to have a baby, this can only be done in a laboratory through a blood test.
The choice of laboratory to carry out the test is as important as the test itself as there have been increasing rate of sickle cell children born of claimed non-carrier parents, research have shown that this is impossible hence the delimma is blamed on the incompetency of the laboratory technician or equipment.
Ensure the test is carried out in a standard laboratory preferable a government hospital laboratory.

Sickle cell patients are not to be pitied and are humans also, nobody’s life-span is guaranteed so you shouldn’t see a sickle cell patient as one who will die the following day .

If you are close to a sickle cell patient show them love and talk often encourage them to stick to their routine drugs and follow the doctors advice.

As a parent to a sickle cell child don’t let anyone bring you down by telling you nonsense just ensure you follow the doctors advice and ensure you report any observation to the doctor early for proper management.

Every parent should ensure their child’s genotype and blood group is known and there is proof.

Do not forget that test should only be done in standard laboratories to avoid stories that touch.

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