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Question
A child suffering from Thalassemia is born to a normal couple. But the mother is being blamed by the family for delivering a sick baby.
- What is Thalassemia?
- How would you counsel the family not to blame the mother for delivering a child suffering from this disease? Explain.
- List the values your counselling can propagate in the families.
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Solution
- Thalassemia is a group of autosomal recessive blood disorders characterized by severe anemia as a result of production of faulty haemoglobin chains. Mutations in the genes coding for the alpha, beta or delta chains constituting haemoglobin lead to the synthesis of improperly folded haemoglobin that is incapable of transporting oxygen efficiently.
- Thalassemia is an autosomal recessive disease, which means the mutation is carried on one of the autosomes, so the carrier can be any one of the two parents. It has an equal probability of coming from the mother or the father, so to just blame the mother for the child’s abnormality is unjustified.
- The values counseling can propagate in the families are:
- Give a healthy diet plan to the child.
- Accepting their child with all his/her positives and negatives.
- Neither of the parents is responsible for giving birth to a sick baby.
- The defect is caused by a random change in the genes of the child.
- Encouraging the child to follow his/her treatment regularly and lead a happy and normal life.
- Support the child emotionally by talking about fear, anxiety, and depression or stress the child feels.
RELATED QUESTIONS
Why are thalassemia and haemophilia categorized as Mendelian disorders? Write the symptoms of these diseases. Explain their pattern of inheritance in humans.
A couple with normal vision bear a colour blind child. Work out a cross to show how it is possible and mention the sex of the affected child.
During a medical investigation, an infant was found to possess an extra chromosome 21. Describe the symptoms the child is likely to develop later in the life.
The genotype of a person withTumer's syndrome will be:
(i) 44+XXY
(ii) 44+XYY
(iii) 44+XO
(iv) 44+XXYY
Match the column-I with column-II and re-write the matching pairs.
| Column-I | Column-II |
| 1. 21 trisomy | a. Turner’s syndrome |
| 2. X-monosomy | b. Klinefelter’s syndrome |
| 3. Holandric traits | c. Down's syndrome |
| 4. Feminized male | d. Hypertrichosis |
Webbed neck is characteristic of ______ syndrome.
Write a note on Down’s syndrome.
Identify the disease caused by an autosomal primary non-disjunction.
In Down's syndrome, karyotyping has shown that the disorder is associated with trisomy of chromosome number 21 usually due to ______.
Jacob is genetically a carrier of the disorder that affects the shape of the RBCs, as shown in the diagram below. His son James suffers from the same disorder.
- Give the biochemical reason for the disorder that changes the shape of the RBCs, as shown above.
- Draw a Punnett square to show the genotype of the mother of James.
- Name and define the type of 'point mutation' responsible for this disorder.
