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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.
(a) What is Thalassemia?
(b) How would you counsel the family not to blame the mother for delivering a child suffering from this disease? Explain.
(c) List the values your counselling can propagate in the families.
Solution
(a) 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.
(b) 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.
(c) The values counseling can propagate in the families are:
i. Give a healthy diet plan to the child
ii. Accepting their child with all his/her positives and negatives
iii. Neither of the parents is responsible for giving birth to a sick baby.
iv. The defect is caused by a random change in the genes of the child.
v. Encouraging the child to follow his/her treatment regularly and lead a happy and normal life.
vi. Support the child emotionally by talking about fear, anxiety, and depression or stress the child feels.
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RELATED QUESTIONS
Identify 'a', 'b', 'c',’d’, 'e' and 'f' in the table given below:
| No. | Syndrome | Cause | Characteristics of affected individuals | Sex Male/Female/Both |
| 1. | Down's | Trisomy of 21 | 'a' (i) (ii) |
'b' |
| 2. | 'c' | XXY | Overall masculine development. |
'd' |
| 3. | Turner's | 45 with XO | 'e' (i) (ii) |
'f' |
Name a disorder a human suffers from as a result of the monosomy of the sex chromosome. Give the karyotype and write the symptoms.
Match the Column I and Column II and select the correct option.
| List-I | List-II | ||
| i. | Holandric genes | a. | Pleiotropy |
| ii. | Multiple effects of a single gene | b. | Hypertrichosis |
| iii. | Skin colour in man | c. | Multiple Alleles |
| iv. | ABO Blood types | d. | Polygenic inheritance |
The correct answer is
Identify the genetic disorder m which an individual has an overall masculine development, gynaecomastia and is sterile.
In Klinefelter syndrome, an extra chromosome is a result of non-disjunction of X-chromosome during ____________.
In sickle-cell anaemia, shape of RBCs under oxygen tension becomes ______.
Failure of segregation of chromatids during cell division results in the gain or loss of chromosomes, this is called as ______.
Rajesh and Mahesh have defective haemoglobin due to genetic disorders. Rajesh has too few globin molecules while Mahesh has incorrectly functioning globin molecules. Identify the disorder they are suffering from.
| Rajesh | Mahesh | |
| A. | Sickle cell anaemia - an autosome linked recessive trait | Thalassemia - an autosome linked dominant trait |
| B. | Thalassemia - an autosome linked recessive blood disorder | Sickle cell anaemia - an autosome linked recessive trait |
| C. | Sickle cell anemia - an autosome linked recessive trait | Thalassemia - an autosome linked recessive blood disorder |
| D. | Thalassemia - an autosome linked recessive blood disorder | Sickle cell anaemia - an autosome linked dominant trait |
Why is the frequency of red-green colour blindness is many times higher in males than that in females?
Mention any one symptom of Turner's syndrome.
