Advertisements
Advertisements
प्रश्न
Why is thalassemia cotegorised as a Mendelian disorder? Write the symptoms and explain the causes of the disease. How does it differ from Sickle cell anaemia?
Advertisements
उत्तर
- Mendelian disorders are caused by changes or mutations in a gene. Thalassemia is caused by a gene deletion or mutation that codes for the alpha (a) or beta (P) globin chains of the haemoglobin molecule. Hence Thalassemia is a hereditary condition.
- It is a quantitative problem of synthesising a small number of globin molecules.The alpha chain is controlled by two genes on chromosome 16, HBAl and HBA2, while the β chain is controlled by a single gene on chromosome 11, HBB.
- A deletion or mutation in any of these genes reduces the production of the corresponding globin chains. Thalassemia symptoms include anaemia, pale yellow complexion, changes in the size and shape of RB Cs, sluggish growth and development, dark urine, and so on.
- Massive blood transfusion is needed for these patients.
- Thalassemia varies from sickle cell anaemia in the following ways: Thalassemia is a quantitative problem caused by the inability to synthesise a sufficient number of globin molecules, whereas sickle cell anaemia is a qualitative problem caused by the inability to synthesise an improperly functioning globin.
APPEARS IN
संबंधित प्रश्न
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.
State any two symptoms of Down’s syndrome.
Write a note on Down’s syndrome.
Mention the symptoms of Phenylketonuria.
Which of the following characteristics are observed in a person suffering from Turner syndrome?
Match the Column-I with Column-II and choose the CORRECT answer
| Column-I | Column-II | ||
| P. | Klinefelter syndrome | i. | Mutation in autosomal gene |
| Q. | Thalassaemia | ii. | Mutation sex chromosome linked gene |
| R. | Down syndrome | iii. | Trisomy of autosome |
| S. | Colour blindness | iv. | Trisomy of sex chromosome |
If a genetic disease is transferred from a phenotypically normal but carrier female to only some of the male progeny, the disease is ______.
The most striking example of point mutation is found in a disease called ______.
Trisomy is represented by ______.
“Genes contain the information that is required to express a particular trait.” Explain.
