Thalassaemia

Question 1

Pathophysiology behind thalassaemia

Answer 1

• inherited disorder
• three types; alpha beta and thalassaemia minor
• caused by abnormal mutations in alpha and beta globulins on HB
• this causes malformations in RBCs causing them to break down quicker
• alpha thalassaemia affects alpha globulins on chromosome 16 deficiency of 3 alpha globin genes
• beta thalassaemia affects beta globulins on chromosome 11 body unable to produce beta globulins and inherits from both parents
• minor is a carrier tends to have no health conditions
• major both genes from parents doesn’t survive pregnancy/birth
• mainly effects Greek Turkish middle eastern African and Asian people

Question 2

Signs and symptoms of ma of thalassaemia (9)

Answer 2

• bone deformities to skull and jaw
• fatigue
• cirrhosis
• dark urine
• poor appetite
• jaundice
• enlarged spleen
• risk of infection
• endocrine system problems

Question 3

Paula sees you at her booking appointment at 7/40 and discloses that she has thalassaemia what is your management plan?

Answer 3

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