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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
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.
Give an example of an autosomal recessive trait in humans. Explain its pattern of inheritance with the help of a cross.
In sickle cell anaemia glutamic acid is replaced by valine. Which one of the following triplets codes for valine?
Thalassemia and sickle cell anemia are caused due to a problem in globin molecule synthesis. Select the correct statement.
The person with Turner’s syndrome has ______.
The most striking example of point mutation is found in a disease called ______.
Trisomy is represented by ______.
This abnormality occurs due to monosomy (2n - 1); the individual has 2n = 45 chromosomes with 44 + XO genotype.
Read the following and answer from given below:
Turner's syndrome is an example of monosomy. It is formed by the union of an allosome-free egg and a normal 'X' containing sperm or a normal egg and an allosome-free sperm. The individual has 2n = 45 chromosomes (44 + X0) instead of 46. Such individuals are sterile females who have rudimentary ovaries, underdeveloped breasts, small uterus, short stature, webbed neck, and abnormal intelligence. They may not menstruate or ovulate. This disorder can be treated by giving female sex hormones to women from the age of puberty to make them develop breasts and have menstruation. This makes them feel more normal.
Which of the following statements regarding Turner's syndrome is incorrect?
Clotting of blood is to ______.
