Sickle cell anemia – a dreadful disease

Sickle cell anemia

Sickle cell anemia (SCA) is a severe hereditary form of anemia in which a mutated form of hemoglobin distorts the red blood cells into a crescent shape at low oxygen levels. It is a condition in which there isn’t enough healthy red blood cells to carry adequate oxygen throughout your body.  It’s hereditary meaning that it has to come from the parents of an infant, but in case a person receives a gene for sickle-cell disease from one parent and a normal gene from the other parent, the person will have a condition known as “sickle cell trait”. Sickle cell trait produces no symptoms or problems for most people.

HOW TO DETECT

It can be detected through a blood test which can check for hemoglobin S (the defective form of hemoglobin that underlines sickle-cell anemia). If the screening result is negative, there is no sickle-cell gene but if it is positive, further test will be done to determine whether one or two sickle-cell genes are present.

Sickle cell disease can also be diagnosed in an unborn baby by sampling some of the fluid surrounding the baby in the mother’s womb (amniotic fluid) to look for the sickle-cell gene. If you and your partner have been diagnosed with the sickle-cell anemia or the sickle-cell trait, it is better to end the relationship or consult a genetic counselor who can help you understand the risk to your baby.

From the diagram above, we notice that normal blood cells are round in shape but that of sickle-cell are like sickle shape. Normally, the red blood cells are flexible, moving easily along the blood vessels. In sickle-cell anemia the red blood cells become rigid and sticky. These irregularity causes difficulty of movement of blood cells along the vessels which can block blood flow and oxygen to parts of the body.

Why it is common with the Africa region?

This disease was believed to have come about as a result of resistance to the treatment of malaria and Africa was one the regions prone to this malaria.

Sickle cell disease (SCA) is thought to be common among inhabitants of the sub-Saharan Africa, affecting 3%of birth & high rate of mortality in some parts of continent, but there is no data backing it up.

But there are also some undocumented reasons for the widespread of this epidemic disease especially In Nigeria namely:

  • Marriage of persons carrying the sickle-cell trait
  • Sheer ignorance exercised by persons with knowledge of the disease partly due to their beliefs
  • Inadequate sensitization about the dangers of the disease
  • High level of illiteracy
  • Most parents do not know their infants are carriers of the sickle-cell disease until about the age of 5-6 months

Symptoms

These symptoms vary from person to person and may change overtime, they include

  • Pains: Periodic episodes of pain called crisis, is a major symptom of SCA. Pains develop when sickle-shaped blood cells block blood flow through the tiny blood vessels. The pain varies in intensity and can last for a few hours to a few weeks, can range from a few to a dozen or more crisis a year. Some crisis may be chronic which can lead to joint and bone damage, ulcers etc.
  • Anemia: It is a condition where your body can’t get enough oxygen to feel energized which leads to fatigue. Normal red blood cells live for about 120 days before the need to be replaced but the sickle cells usually die in 10 – 20 days causing a shortage of red blood cells.
  • Painful swelling of hands and feet: This is caused by sickle-shaped red blood cells blocking blood flow to the hands and feet.
  • Delayed growth: A shortage of healthy red blood cells can slow growth in infants and children and delay puberty in teenagers.
  • Frequent infections: Sickle cell disease can damage an organ (SPLEEN) that helps fight infections in the body, leaving you more vulnerable to infections.
  • Vision problem: Tiny blood vessels that supply your eyes may become plugged with sickle cells. This can damage the retina (the part of the eye that processes visual image), leading to visual problems such as blindness.
  • Others include Stroke, pulmonary hypertension.

Treatment

For now the only known cure is the Bone marrow transplant (stem transplant) which is usually for people younger than 16, because the risk increases for people older than 16 and getting a donor is difficult. And another is making frequent visits to the doctor for check-up.

Medications

These include:

  • Pain relievers
  • Antibiotics (children begin taking antibiotic penicillin at 2 months until they are at least 5 years old. Doing so helps prevent infections such as pneumonia, which can life threatening to an infant with SCA.
  • Water : To keep you hydrated all day
  • Hydroxyurea (Droxia,Hydrea): when taken daily, it reduces the frequency of painful crisis and might reduce the need for blood transfusions and hospitalizations. Hydroxyurea seems to work by stimulating production of fetal hemoglobin (a type of hemoglobin found in newborns that prevents the formation of sickle cells.

                                           Way forward

  • Discourage union of persons with sickle-cell trait
  • More education and sensitization of the public about the dangers of SCA
  • Conduct more research at finding more treatment for the disease.

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