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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?
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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.
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संबंधित प्रश्न
Give any 'two' names of X-linked diseases
Why are thalassemia and haemophilia categorized as Mendelian disorders? Write the symptoms of these diseases. Explain their pattern of inheritance in humans.
Give an example of a human disorder that is caused due to a single gene mutation.
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Thalassemia and sickle cell anaemia are caused due to a problem in globin molecule synthesis. Identify the correct statement from the following.
A person with 47 chromosomes due to an additional Y-chromosome suffers from a condition called ______.
If both parents are carriers for thalassaemia, which is an autosomal recessive disorder, what are the chances of pregnancy resulting in an affected child?
Klinefelters’ syndrome is characterised by a karyotype of ______.
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 |
Describe Turner's syndrome.
