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All you need to know about Sickle Cell Disorder



All you need to know about Sickle Cell Disorder

By Hadiza Mohammed Aliyu As the world celebrates Sickle Cell Day (SCD) on June 19, declared by the World Health Organization (WHO), there is a need to know what it is, so that people can take precautions to avoid having children with the disease, being an inherited disease. The day is themed for 2021 “Shine the Light on Sickle Cell”, with a focus on increased awareness of the disease. Sickle cell anemia, also known as sickle cell anemia, is a group of disorders that cause red blood cells to deform and break down. This is an inherited group of disorders, where the red blood cells contort into a sickle shape and die early, leaving a shortage of healthy red blood cells to carry oxygen throughout the body, blocking blood flow and causing damage. pain to the patient, usually called a sickle cell crisis. Normal red blood cells usually live for about 120 days before being replaced, but in patients with sickle cell disease, the cells die within 10 to 20 days, causing a shortage, and without enough red blood cells the body cannot get enough. oxygen, causing pain and fatigue. Normally, flexible, round red blood cells move easily in blood vessels, but in sickle cell anemia, red blood cells are shaped like sickles or crescent moons. These rigid, sticky cells can get stuck in small blood vessels, which can slow or block the flow of blood and oxygen to parts of the body. There is no cure for most people with sickle cell disease, but treatments can ease pain and help prevent complications associated with the disease, which can last for years or a lifetime, and require medical diagnosis. such as lab tests or imaging. The disorder is caused by a mutation in the gene that tells the body to make the iron-rich compound that makes blood red and allows red blood cells to carry oxygen from the lungs throughout the body (hemoglobin). For a child to be affected, both parents must pass the defective form of the gene, and if only one parent passes the sickle cell gene to the child, the child will have the sickle cell trait. With a normal hemoglobin gene and a defective form of the gene, people with sickle cell trait produce both normal hemoglobin and sickle cell hemoglobin. Their blood may contain sickle cell cells, but they usually have no symptoms. They are carriers of the disease, which means they can pass the gene on to their children. Therefore, there is a need to increase awareness of the importance of pre-marriage genotype testing, as it is the pgenotype problem incompatibility which results in SCD, with high prevalence rates in Africa, south of the Sahara, according to to the Health Councils of the AUN Health Center.

Genotype can simply be defined as the genetic makeup of an individual organism.

The genotypes in humans are AA, AS, AC, SS. They refer to the constituents of the hemoglobin gene on red blood cells. AC is rare, while AS and AC are abnormal.

A genotype compatibility table shows that;

AA + AA = AA, AA, AA, AA (Excellent)
AA + AS = AA, AS, AA, AS, (Good)
AA + SS = AS, AS, AS, AS, (Fair)
AA + AC = AA, AA, AA, AC. (Good)
AS + AS = AA, AS, AS, SS, (Very bad)
AS + SS = AS, SS, SS, SS, (Very bad)
AS + AC = AA, AC, AS, SS. (Bad; advice needed)
SS + SS = SS, SS, SS, SS, (Very bad)
AC + SS = AS, AS, SS, SS, (Very bad)
AC + AC = AA, AC, AC, SS. (Bad; advice needed)

The genotypes compatible for marriage are; AA marries an AA – who is the best match, and in this way the couple saves their future children the worry of the compatibility of genotypes.

Also, when an AA marries an AS, the couple end up with AA and AS children, which is good, but sometimes, if bad luck, all the children can be AS, which limits their choice of partner.

However, AS and AS shouldn’t get married because there is every chance of having a child with SS, while AS and SS shouldn’t think about getting married.

And definitely, SS and SS must not get married since there is absolutely no chance of escaping a child with sickle cell disease.

Signs and symptoms, such as periodic episodes of pain called pain attacks that develop when sickle-shaped red blood cells block blood flow through tiny blood vessels to the chest, abdomen, and joints, usually appear around the age of five months, but vary from person to person and change over time. The pain varies in intensity and can last from a few hours to a few weeks, and while some people have only a few painful attacks per year, others have a dozen or more, requiring hospitalization. Other symptoms include swelling of the hands and feet, caused by sickle-shaped red blood cells, blockage of blood flow to the hands and feet, and frequent infections as sickle cells damage the spleen, as well as growth retardation or puberty due to a lack of healthy red blood. cells slow growth in infants and children and delay puberty in adolescents. There are also vision problems, as the tiny blood vessels that supply the eyes can become blocked with sickle cells, damaging the retina, which is the part of the eye that processes visual images – and lead to vision problems. Doctors usually give infants and children with sickle cell disease vaccines and antibiotics to prevent life-threatening infections, such as pneumonia. It is therefore essential to see a doctor promptly if a child develops a severe fever, unexplained episodes of severe pain in the abdomen, chest, bones or joints, swelling of the hands or feet, especially if the area is severe. tender to touch, pale skin or nail beds, yellowing of the skin, or one-sided paralysis or weakness of the face, arms or legs. Some others are confusion; difficulty walking or speaking; sudden vision changes or unexplained numbness; or a severe headache.

Meanwhile, the only procedure that can change the genotype is bone marrow transplant (BMT), which has shown the most promise. permanent cure of SS, SC and CC.

However, the BMT is new and expensive. (NAA)


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