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Sickle Cell Disease - Coggle Diagram
Sickle Cell Disease
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Signs/Symptoms
Parents with SC anaemia, disease or trait
persistent pain in skeleton, chest or abdomen
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Management
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bone marrow transplant for children with severe complications who are unresponsive to first line therapies
Aetiology
Sickle cell
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In sickle cell anaemia, valine replaces glutamic acid at the sixth amino acid of the beta globin chain, as a result of a recessive single gene mutation
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Sickle beta-thalassaemia
occurs when a child inherits a sickle gene from one parent and a beta-thalassaemia gene from the other parent
a mutation of the beta gene blocks production of the normal beta globin chain (beta 0) or reduces its production (beta +)
Haemoglobin SC
occurs when a child inherits a sickle gene from one parent and haemoglobin C mutation from the other parent
The haemoglobin C mutation is an amino acid substitution of lysine for glutamic acid at the 6th position of the beta globin chain
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Definition
Sickle cell anaemia is caused by an autosomal-recessive single gene defect in the beta chain of haemoglobin, which results in production of sickle cell haemoglobin (HbS)
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Prognosis
More than 90% of patients of all phenotypes will survive past 20 years of age, and significant numbers are older than 50 years of age