Beta thalassaemia is an autosomal recessive genetic disorder. This means an individual needs to inherit two copies of the altered gene (one from each parent) to have the condition, known as beta thalassaemia major.
A 'carrier' of the beta thalassaemia gene has one normal gene and one altered gene. They typically do not exhibit severe symptoms but can pass the altered gene to their children. If both parents are carriers, they each have the genotype $Aa$ (where $A$ is the normal allele and $a$ is the beta thalassaemia allele).
To determine the probability for each pregnancy, we can use a Punnett square:
| $A$ | $a$ | |
| $A$ | $AA$ | $Aa$ |
| $a$ | $Aa$ | $aa$ |
Therefore, in each pregnancy, there is a 25% chance that the child will inherit the beta thalassaemia major condition ($aa$).
Which of the following is NOT a maternal risk factor for the development of a neural tube defect?
Which of the following biochemical tests for the detection of aneuploidies is performed in the first trimester of pregnancy?
Which of the following is NOT a birth defect related to a disorder in the development of the whole eyeball?