All Exams Test series for 1 year @ ₹349 only
Question

If both the parents are carriers of the beta thalassaemia gene, the chance of having a child with thalassaemia major in each pregnancy is

The correct answer is
25%

Beta Thalassaemia Inheritance Probability

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).

Punnett Square Analysis

To determine the probability for each pregnancy, we can use a Punnett square:

$A$ $a$
$A$ $AA$ $Aa$
$a$ $Aa$ $aa$

Offspring Genotypes and Risks

  • $AA$ (25%): Child inherits a normal gene from both parents. The child will be unaffected and not a carrier.
  • $Aa$ (50%): Child inherits one normal gene and one altered gene. The child will be a carrier like the parents.
  • $aa$ (25%): Child inherits the altered gene from both parents. The child will have beta thalassaemia major.

Therefore, in each pregnancy, there is a 25% chance that the child will inherit the beta thalassaemia major condition ($aa$).

Was this answer helpful?

Important Questions from Congenital Disorders

  1. To prevent recurrence, expectant mothers with a previous fetus with neural tube defect should receive folic acid daily at the dose of :
  2. Consider the following statements regarding non-invasive prenatal screening (NIPS) for screening high risk pregnancies for aneuploidies: 

    1. It is carried out on maternal blood. 

    2. It is done before 10 weeks gestation. 

    3. It has a negative predictive value of about 98%. 

    4. Invasive testing is needed for confirmation of a positive test. 

    Which of the statements given above are correct?

  3. The risk of Down syndrome is 100% in the offspring, if:
  4. Which of the following are examples of genomic imprinting? 

    1. Angelman syndrome 

    2. Williams syndrome 

    3. Prader-Willi syndrome 

    4. DiGeorge syndrome 

    Select the correct answer using the code given below:

  5. To reduce the risk of neural tube defects in the baby, which of the following are recommended?
Need Expert Advice?

Start Your Preparation with Prepp Mobile App

Download the app from Google Play & App Store
Download the app from Google Play & App Store
Prepp Mobile App