Full 2L QBank
Pathology Blood disorder 7a67eef0

Most common mutation in haemophilia is:

A
Intron 1 inversion
B
Intron 22
C
619 bp deletion
D
3.7 bp deletion
High-Yield Explanation
Genetic abnormalities in haemophilia : Inversions: Intron 22 inversion, Intron 1 inversion Point mutations: Missense mutation, nonsense mutation, frameshift mutation Deletion of pa or whole of gene Inseion of repetitive sequences Splicing errors affecting production of mRNA Hemophilia A(factor 8 deficiency) -x linked recessive trait, affects mainly males and homozygous females Hemophilia B - x linked disorder caused by mutations in coagulation Factor 9

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