QuestionSBA
QuestionChoice
This is a gene mutation associated with acute myeloid leukaemia.
10001415
d
DNA (cytosine-5)-methyltransferase 3A (DNMT3A) mutation
QuestionChoice
This patient has polycythaemia rubra vera. Nearly 100% of patients with polycythaemia rubra vera have a JAK2 mutation.
10001412
a
JAK2
QuestionChoice
The c-myc gene is associated with Burkitt's lymphoma.
10001414
c
C-myc gene translocation
QuestionChoice
This gene mutation is associated with chronic myeloid leukaemia as there is a translocation between the BCR and ABL genes.
10001413
b
BCR-ABL
QuestionChoice
This is associated with sickle cell disease, as a mutation in the haemoglobin subunit beta (HBB) gene leads to the formation of haemoglobin S instead of beta-globin.
10001416
e
HBB gene mutation
Concept
Chapter
2693
3926
polycythaemia
Topic
157
Haematology
12829
A 50-year-old male presents to his GP with headaches and dizziness. On further questioning, he reports feeling itchy after taking hot showers. On examination, you notice he has a plethoric face.

Based on the most likely diagnosis, which of the following gene mutations would confirm the diagnosis?
a