Notes in Thalassaemia

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Published	10/08/2024	Thalassaemia is related to a genetic defect in the {{c1::protein chains}} that make up haemoglobin
Published	10/08/2024	Normal haemoglobin consists of 2 alpha and 2 beta globin chains. Defects in the alpha globin chains lead to {{c1::alpha thalassaemia}}. D…
Published	10/08/2024	Beta-Thalassaemia gene defect either consists of abnormal copies that retain some function or deletion genes where there is no function in the…
Published	10/08/2024	In patients with thalassaemia the red blood cells are more {{c1::fragile}} and {{c1::break down}} more easily. spleen acts as a sieve t…
Published	10/08/2024	in Thalassaemia, bone marrow expands to produce extra red blood cells to compensate for the {{c1::chronic anaemia}}. Thhis causes …
Published	10/08/2024	Thalassaemia Signs and Symptoms• On FBC: {{c1::Microcytic}} anaemia ({{c1::low::high/low?}} MCV) • Symptoms: {{c1::Fatigue}}, {{c1::Pallor}}• Sig…
Published	10/08/2024	Diagnosis of Thalassaemia  • Full blood count shows a {{c1::microcytic anaemia.}}• {{c1::Haemoglobin electrophoresis}} is used to diagnose g…
Published	10/08/2024	{{c1::Iron overload}} occurs in thalassaemia as a result of the faulty creation of red blood cells, recurrent transfusions and inc…
Published	10/08/2024	Patients with thalassaemia have serum {{c1::ferritin}} levels monitored to check for iron overload. Management of iron overload in…
Published	10/08/2024	Iron overload in thalassaemia causes effects similar to haemochromatosis:• {{c1::Fatigue}}• Liver {{c1::cirrhosis}}• Impotence• {{c1::Heart …
Published	10/08/2024	Alpha-thalassaemia is caused by defects in the {{c1::alpha}} globin chains. The gene for this protein is on chromosome {{c1::16}}.
Published	10/08/2024	Alpha-Thalassaemia Management:• Monitoring via {{c1::FBC}}• Monitoring for {{c1::complications}}• Blood {{c1::transfusions}}• {{c1::Splenectomy}} may …
Published	10/08/2024	Beta-thalassaemia is caused by defects in the {{c1::beta}} globin chains. The gene for this protein is on chromosome {{c1::11}}.
Published	10/08/2024	Thalassaemia MinorThese are carriers of an abnormally functioning beta globin gene. They have one abnormal and one normal gene. It causes a …
Published	10/08/2024	Thalassaemia MajorThese patients have {{c1::no}} functioning beta globin genes Most severe formPresents with {{c1::severe anaemia}} and {{c1::fai…
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