Sickle Cell Anaemia Essay

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In the presentation of these two haemoglobinopathies, we will firstly start by presenting the different conditions of sickle cell disorders and finish by doing the same for alpha and beta thalassaemias.
Sickle cell disorders are a group of inherited disorders where adult haemoglobin (HbA) is replaced by sickle haemoglobin (HbS) due to the substitution of glutamic acid by valine at the position 6 of the beta globin chains3. In addition, these disorders can be of various conditions, however, we will mostly on the two most known conditions which are sickle cell anaemia (HbSS) and sickle cell trait (HbAS). The other conditions are those where sickle cell disorders is associated with other disorders such as beta thalassaemia or haemoglobin C (HbSC). Sickle cell anaemia refers to the form of sickle cell disorders where the patient receives a copy of the mutated gene from each of his parents (homozygosity) whereas in sickle cell trait, the individual only gets one copy of the mutated gene from one his parents
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These mutations can manifest themselves in three cases: when the mutation happens in only one the beta globin gene, the resulting condition is named heterozygous beta thalassaemia( beta thalassaemia trait) and the possessing individuals are only considered as carriers.
This case called beta thalassaemia intermedia where the two genes are defective is almost the same as the last one,but here the production of beta chains is only moderately reduced.
Finally, when both beta globin genes are mutant, we denote the presence of homozygous beta thalassaemia( thalassaemia major) which is considered as the most serious case. Indeed, people in this condition have haemoglobin entirely constituted of alpha globin
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