Sickle Cell Anaemi A Severe Hereditary Form Of Anaemia Essays

Sickle Cell Anaemi A Severe Hereditary Form Of Anaemia Essays

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Sickle cell anaemia is a severe hereditary form of anaemia. Anemia is a condition where there is an inadequate amount of red blood cells or haemoglobin in the blood. HBB also known as haemoglobin beta along with alpha globin makes haemoglobin (HbA). The main function of haemoglobin (HbA) is to transport oxygen from the lungs to the tissues and then transport CO2 back from the tissues to the lungs. It is 146 amino acids and Hemoglobin (HbA) makes up 98 percent of the total hemoglobin, and HbA2 makes the remaining 2 percent. HBB protein is produced by the gene HBB that is located in the multigene locus (which means that the locus is on many alleles) of β-globin locus on chromosome 11, specifically on the short arm position 15.5[18]. Mutation in the HBB gene can lead to the formation of hemoglobin S that results in sickle cell anaemia (see figure 1.11) [2].

When oxygen levels are low in the blood, the likelihood of a mutated form of hemoglobin (hemoglobin S, also known as HbS) altering the red blood cell giving it a crescent-looking shape dramatically increases (see figure 1.11).The abnormal crescent shape cells mean that they can carry less oxygen, causing illnesses such as: Jaundice (yellowing of the eyes and skin), shortage of breath, and pulmonary hypertension– where blood pressure in blood vessels (for example the pulmonary artery that connects the heart to the lungs) become critically high. The stiff and rigid hemoglobin S also becomes jammed in small blood vessels. This deprives tissues and organs of oxygen-rich blood and can lead to temporary organ damage, commonly in the kidney, brain and spleen. The damage to organs can be reversed if the organs can be resupplied with enough oxygen. If not treated the damages may worsen. H...


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...ild’s health.

Since there are no current cures for sickle cell anemia, these individuals have the ability to still pass on this faulty gene to their offspring and give birth to babies who may then suffer from sickle cell anemia (See figure 1.14). This creates further problems such as increased hospitalization (See figure 1.15), which leads to more money being spent on treating the agonizing pain and chronic health problems. Figure 1.16 shows the average direct cost per hospitalizations, which are well over thousands of dollars.

There are many treatments in place such as: Hydroxyurea, oxygen therapy, nitric oxide, statins and blood and marrow stem cell transplant which can help treat complication and relieve symptoms. The aim of treating this disease is to prevent organ damage, pains, infections and control complication that may arise from having sickle cell anaemia.

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