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Thalassaemia: Difference between revisions
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(Created page with "'''Thalassaemia''' is a group of diseases characterised by one or more defective globin genes, causing haemolytic anaemia. Like sickle cell anaemia it is more common in Africa and the Mediterranean, but also south-east Asia. == Pathophysiology == We distinguish alpha and beta thalassaemia, based on whether the alpha or beta globin genes are defective. Alpha globin chain production is controlled by two genes, so there are four alleles that can...") |
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'''Thalassaemia''' is a group of diseases characterised by one or more defective globin genes, causing [[haemolytic anaemia]]. Like [[Sickle cell disease|sickle cell anaemia]] it is more common in Africa and the Mediterranean, but also south-east Asia. | <section end="clinical biochemistry" />'''Thalassaemia''' is a group of diseases characterised by one or more defective globin genes, causing [[haemolytic anaemia]]. Like [[Sickle cell disease|sickle cell anaemia]] it is more common in Africa and the Mediterranean, but also south-east Asia.<section end="clinical biochemistry" /> | ||
== Pathophysiology == | == Pathophysiology == | ||
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Severity of the anaemia increases with increased number of affected genes, and ranges from asymptomatic to mild haemolytic anaemia to severe haemolytic anaemia. If all four alpha genes are deleted, the condition is incompatible with life (Hb Barts -> hydrops foetalis). | Severity of the anaemia increases with increased number of affected genes, and ranges from asymptomatic to mild haemolytic anaemia to severe haemolytic anaemia. If all four alpha genes are deleted, the condition is incompatible with life (Hb Barts -> hydrops foetalis). | ||
<section begin="clinical biochemistry" /> | |||
== Diagnosis and evaluation == | == Diagnosis and evaluation == | ||
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* [[Haemoglobin electrophoresis]] – to confirm diagnosis | * [[Haemoglobin electrophoresis]] – to confirm diagnosis | ||
* DNA analysis (PCR) – to confirm diagnosis | * DNA analysis (PCR) – to confirm diagnosis | ||
<section end="clinical biochemistry" /> | |||
== Treatment == | == Treatment == | ||
In mild thalassaemias, no treatment is necessary. In severe ones, lifelong regular [[Blood transfusion|blood transfusions]] are necessary. Treatment with [[Iron chelator|iron chelators]] is necessary to prevent iron overload. [[Haematopoietic stem cell transplantation]] could be curative in severe cases. | In mild thalassaemias, no treatment is necessary. In severe ones, lifelong regular [[Blood transfusion|blood transfusions]] are necessary. Treatment with [[Iron chelator|iron chelators]] is necessary to prevent iron overload. [[Haematopoietic stem cell transplantation]] could be curative in severe cases. | ||
[[Category:Haematology]] | [[Category:Haematology]] | ||