Lecture 6 - haemoglobinopathies Flashcards
what is the quartnerary structure of haemoglobin
4 peptide chains
each globin subunit contains a ham group capable of bidning oxygen
what are the globin subtypes
alpha
beta
delta
gamma
what are the different types of haemoglobin and what are there %
haemoglobin A - 95
haemoglobin A2 - 2-3.5
haemoglonin F - 2
what is the quantitative type of haemoglobinopathy
thalassemia - reduced rate of haemoglobin synthesis
types- alpha and beta thalassemia
what are the qualitative types of haemoglobinopathy
abnormal haemoglobin - synthesis of structurally abnormal haemoglobin
types: HbS, HbC,HbD, HbE
what is alpha thalassaemia structure
four alpha globin genes
(2 inherited from each parent)
what is the cause of alpha thalassemia
mainly due to deletions
rarely due to mutations
what is the beta thalassemia structure
two beta globin genes (1 inherited from each parents)
what is beta thaslassemia due to
point mutations
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