Thalasaaemia Flashcards
Pathophysiology of thalassaemia
Inherited disorder three types alpha beta and thalassaemia minor/major
Caused by mutations on alpha and beta chains of HB
Causes malformations of RBCs causing them to breakdown quicker
Alpha thalassaemia effects alpha globulins on chromosome 16 and has deficiency of 3 alpha globulin genes
Beta thalassaemia effects beta globulins on chromosome 11 where body is unable to produce beta globulins
Thalassaemia minor is a carrier with one effected end with usually no health conditions
Major has both genes from parents and doesn’t usually survive pregnancy and birth
Linked to ethnicity such as Greek Turkish middle easter. African and Asian people
Signs and symptoms of thalassaemia (9)
Bone deformities in skull and jaw mainly Fatigue Cirrhosis Dark urine Poor apetite Jaundice Enlarged spleen Increased risk of infection Endocrine system problems
What would management plan be for someone with thalassaemia
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