23/12/2023
SICKLE CELL ANAEMIA
Sickle cell anemia is an inherited disorder known as sickle cell disease. It affects the shape of red blood cells, which carry oxygen to all parts of the body.
Red blood cells are usually round and flexible, so they move easily through blood vessels. In sickle cell anemia, some red blood cells are shaped like sickles or crescent moons (they look like sickles used in harvesting wheat). These sickle cells also become rigid and sticky, which can slow or block blood flow. Its name was derived from the fact that it looked a Sickle
SYMPTOMS
Symptoms of sickle cell disease is usually noticed around 6 months of age (although they may vary from child to child). That's why it's advisable to check a baby's genotype from after six months, because that's probably when the hbS can be actually seen when running genotyoe test with an alkaline electrophoresis method.
1. Anemia. Sickle cells break down easily and die. A normal red blood cells usually live for about 120 days before they are destroyed by the spleen and replaced. But sickle cells usually die in 10 to 20 days, leaving a shortage of red blood cells. Which is known as anemia. Without enough red blood cells, the body can't get enough oxygen. This causes fatigue (tiredness or weakness).
2. Pain Crises. Periodic episodes of extreme pain, called pain crises, are a major symptom of sickle cell anemia. Pain develops when sickle-shaped red blood cells block blood flow through tiny blood vessels to the chest, abdomen and joints. Sickled cells lack the enzyme that enables it to meader through tiny blood vessels (venules and arterioles), when they come to these junction of tiny vessels (joints, hands and feet) they pack there and cause severe pains to the patient, the pain may vary in intensity
3. Swelling of hands and feet. Sickle-shaped red blood cells block blood circulation in the hands and feet because the blood vessels there are tiny and they can't meander through, which can cause them to swell.(edema).
4. Frequent infections. The spleen is important for protecting against infections. Sickle cells can damage the spleen, raising the risk of developing infections especially pneumonia (Children with sickle cell anemia commonly receive vaccinations and antibiotics to prevent potentially life-threatening infections, such as pneumonia)
5. Swollen abdomen; The spleen is responsible for destroying red cells every 120days, but because the sickeled cells are abnormal, the spleen destroys it about every 10days or so, hence over working the spleen, this caused the spleen to increase in size because of the over work (just like a table tennis player, the hand he used in playing the table tennis is usually larger that the other hand because he's over working that hand)
This increase in the size of the spleen causes the abdomen (belly) of the patient to be big and hardened (the Igbos called it "Apà afo")
6. Delayed growth or puberty. Red blood cells provide the body with the oxygen and nutrients needed for growth. A shortage of healthy red blood cells can slow growth in babies and children and delay puberty in teenagers.
7. Vision problems. Tiny blood vessels that supply blood to the eyes can become plugged with sickle cells. This can damage the portion of the eye that processes visual images, called the retina, and lead to vision problems.
DIAGNOSIS
One can only be diagnosed of Sickle cell disorder or disease after the genotype has been confirmed to be SS or SC
One can have some of these symptoms mentioned above, but is not suffering from the sickle cell disease, that's why it's important to confirm with the genotype test
HAEMOGLOBIN A
The normal hemoglobin (Hb A) in adults contains two α (alpha) chains and two β (beta) chains. Each α chain contains 141 amino acids, and each β chain contains 146 amino acids. Hb A2 contains two α chains and two δ (delta) chains.
HAEMOGLOBIN S (sickled hemoglobin)
This is caused as a result of a point mutation in the beta globin chain. This point mutation replaces A with T at codon 6 of beta hemoglobin chain. This causes glutamic acid to be replaced valine amino acid. The valine-type hemoglobin causes red cells to sickle when exposed to a low oxygen threshold. Patient with sickle cell trait (genotype AS) inherits HbS from one parent and HbA from the other parent making them heterozygous.
HAEMOGLOBIN C
Hemoglobin C (abbreviated as HbC) is an abnormal hemoglobin in which glutamic acid residue at the 6th position of the β-globin chain is replaced with a lysine residue due to a point mutation in the HBB gene.
People with one copy of the gene for hemoglobin C do not experience symptoms, but can pass the abnormal gene on to their children. Those with two copies of the gene are said to have hemoglobin C disease and can experience mild anemia. It is possible for a person to have both the gene for hemoglobin S (the form associated with sickle cell anemia) and the gene for hemoglobin C; this state is called hemoglobin SC disease, and is generally more severe than hemoglobin C disease, but milder than the SS .
A person can only have the sickle cell anemia (SS or SC) if both parents carry one copy of the sickle cell gene (HbS and/or HbC) and pass both copies to the child.
MANAGEMENT
1. Visit any Sickle cell foundation or hospital for help
2. Always give the child routine drugs to help build it's red cells
3. Do not expose the child to cold or stress (domestic, emotional etc)
4. Malaria affects sickle cell patients alot, always protect them from mosquito bites and malaria
PREVENTION
1.Sickle cell disease is an inherited disorder, do not go into any love relationship without knowing your genotype and that of your partner
2.Be very sure of your genotype and that of your spouse before getting pregnant
3. If your genotype is AS, AC or SS, please marry only someone with genotype AA, never get pregnant for someone who is not AA
SUMMARY
Sickle cell disease is suffering a child because of the ignorance or foolishness of it's parents. Be wise, save your child and the society this suffering by knowing your genotype today
