QuestionSBA
QuestionChoice
Three copies of the defective gene leads to symptomatic haemoglobin H disease.
10024620
a
Microcytic anaemia, haemolysis and splenomegaly
QuestionChoice
This would be more likely with only two defective copies of the gene.
10024622
c
Mild asymptomatic anaemia
QuestionChoice
This describe what happens in sickle cell disease.
10024624
e
Frequent vaso-occlusive crises
QuestionChoice
This would be more likely with four copies of the gene, as this is the most serious phenotype.
10024621
b
Hydrops fetalis
QuestionChoice
Thalassaemia causes microcytic anaemia, not macrocytic anaemia.
10024623
d
Macrocytic anaemia with iron deficiency
Concept
Chapter
2693
4484
Thalassaemia
Topic
157
Haematology
17322
An unborn baby undergoes genetic testing for alpha thalassaemia as they have a family history of the condition. They are found to have three copies of the defective gene.

What is the most likely phenotype of this patient?
a