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प्रश्न
Give a detail account of thalassemia.
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उत्तर
- Thalassemia is an autosomal, inherited recessive disease.
- A haemoglobin molecule is made of four polypeptide chains- 2 alpha (α) and 2 betas (β) chains.
- The synthesis of alpha chains is controlled by two closely linked genes (HBA1 and HBA2) on chromosome 16 while the synthesis of the beta chain is controlled by a single gene (HBB) on chromosome 11.
- Depending upon which chain of haemoglobin is affected, thalassemia is classified as alpha-thalassemia and beta-thalassemia.
- It is caused due to deletion or mutation of a gene that codes for alpha (α) and beta (β) globin chains that result in the abnormal synthesis of haemoglobin.
- Symptoms: In Thalassemia, the person shows symptoms like anemia, pale yellow skin, change in size and shape of RBCs, slow growth and development, dark urine, etc.
- Massive blood transfusion is needed for these patients.
- Thalassemia differs from sickle-cell anemia. Thalassemia is a quantitative problem of synthesizing few globin molecules, while sickle cell anemia is a qualitative problem of synthesizing an incorrectly functional globin.
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संबंधित प्रश्न
What will be the phenotype of progeny, if a carrier haemophilic female marries a normal male?
Why are thalassemia and haemophilia categorized as Mendelian disorders? Write the symptoms of these diseases. Explain their pattern of inheritance in humans.
A colour-blind child is born to a normal couple. Work out a cross to show how it is possible. Mention the sex of this child.
In which of the following disorders number of chromosomes present is 47?
(A) Turner’s syndrome
(B) Cushing’s syndrome
(C) Acquired Immuno - Deficiency Syndrome
(D) Down’s syndrome
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 |
In Klinefelter syndrome, an extra chromosome is a result of non-disjunction of X-chromosome during ____________.
A woman with albinic father marries an albinic man. The proportion of her progeny is ______.
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 |
“Genes contain the information that is required to express a particular trait.” Explain.
Lipoprotein lipase deficiency (LPLD)is a genetic disorder in which a person has a defective gene for lipase. This leads to high triglycerides, stomach pain, and fat deposits under the skin. It may eventually affect the liver, pancreas and may also cause diabetes. The disorder occurs if a child acquires defective genes from both parents (autosomal recessive). ERT (enzyme replacement treatment) is one of the treatments offered to patients with LPLD.
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- What procedure is followed in ERT?
- What could be one possible drawback of ERT?
- How can LPLD be treated using Biotechnology? Elaborate.
