Which of the following best differentiates thalassemia from sickle cell anaemia?
1. Thalassemia involves abnormal haemoglobin shape, while sickle cell anaemia results from reduced haemoglobin production.
2. Sickle cell anaemia produces abnormally shaped red blood cells, while thalassemia reduces the quantity of functional haemoglobin.
3. Thalassemia affects oxygen-carrying capacity due to misshapen red blood cells, while sickle cell anaemia impacts red blood cell production.
4. Both conditions result solely from abnormal haemoglobin production, without any shape alterations in red blood cells.
Subtopic:  Mendelian Disorders: Sickle Cell Anemia | Mendelian Disorders: Thalassemia |
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Level 1: 80%+
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Suresh and Rajesh have defective haemoglobin due to genetic disorders. In Suresh, the problem is qualitative as he is having incorrectly functioning globin molecules while in Rajesh the problem is quantitative as he is having very few globin molecules. Identify the disorder they are suffering from.
Suresh Rajesh
1. Thalassemia - Autosomal
Dominant blood disorder
Sickle Cell Anaemia - Autosomal linked Recessive trait
2.  Sickle Cell Anaemia -
Autosomal linked
Dominant trait
Thalassemia - Autosomal
Recessive blood disorder
3.  Sickle Cell Anaemia –
Autosomal linked
Recessive trait
Thalassemia – Autosomal
Recessive blood disorder
4.  Thalassemia - Autosomal
Dominant blood disorder
Sickle Cell Anaemia - Autosomal linked Dominant trait
Subtopic:  Mendelian Disorders: Sickle Cell Anemia | Mendelian Disorders: Thalassemia |
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Match the following Mendelian disorders with their characteristics:
Disorder Characteristics
A. Haemophilia 1. Autosomal recessive; deficiency of enzyme converting phenylalanine to tyrosine
B. Phenylketonuria 2. X-linked recessive; defect in blood clotting protein
C. Sickle-cell anaemia 3. Autosomal recessive; quantitative problem - too few globin chains synthesized
D. Thalassemia 4. Autosomal recessive; qualitative problem - Glu→Val substitution in \(\beta\)-globin
Choose the correct matching:
1. A-2, B-1, C-4, D-3 2. A-1, B-2, C-3, D-4
3. A-3, B-4, C-1, D-2 4. A-4, B-3, C-2, D-1
Subtopic:  Mendelian Disorders: Sickle Cell Anemia | Mendelian Disorders | Mendelian Disorders: Hemophilia | Mendelian Disorders: Thalassemia |
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Level 1: 80%+
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Which of the following is an example of Mendelian disorder?

1. Klinefelter's syndrome
2. Down's syndrome
3. Turner's syndrome
4. Thalassemia
Subtopic:  Mendelian Disorders | Mendelian Disorders: Thalassemia |
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Level 1: 80%+
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Which of the following conditions is not a case of aneuploidy?
1. Down’s syndrome
2. Turner’s syndrome
3. Thalassemia
4. Klinefelter’s syndrome
Subtopic:  Mendelian Disorders: Thalassemia | Non - Disjunction & Aneuploidy | Sex Aneuploidy - Turner & Klinefelter Syndrome |
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Level 1: 80%+
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Thalassemia is caused by mutations that reduce the production of hemoglobin chains. Which form of thalassemia results from mutations in the HBB gene, which is located on chromosome 11?
1. Alpha-thalassemia
2. Beta-thalassemia
3. Gamma-thalassemia
4. Delta-thalassemia
Subtopic:  Mendelian Disorders: Thalassemia |
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Level 1: 80%+
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Which of the following statements about Thalassemia is/are correct?
Statement I: α-Thalassemia affects the production of α-globin chains, while β-Thalassemia affects the production of β-globin chains.
Statement II: α- Thalassemia is controlled by two closely linked genes HBA1 and HBA2 on chromosome 16 of each parent.
 
1. Only Statement I is correct
2. Only Statement II is correct
3. Both Statements I and II are correct
4. Both Statements I and II are incorrect
Subtopic:  Mendelian Disorders: Thalassemia |
 84%
Level 1: 80%+
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Consider the given two statements:
Assertion (A): Unlike sickle cell anaemia, thalassemia is essentially a quantitative disorder with respect to production of haemoglobin in affected individuals.
Reason (R): The defect could be due to either mutation or deletion which ultimately results in reduced rate of synthesis of one of the globin chains (alpha and beta chains) that make up haemoglobin.
 
1. (A) is False but (R) is True.
2. Both (A) and (R) are True and (R) is the correct explanation of (A).
3. Both (A) and (R) are True but (R) is not the correct explanation of (A).
4. (A) is True but (R) is False.
Subtopic:  Mendelian Disorders: Thalassemia |
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Level 1: 80%+
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Which of the following is not a hereditary disease:

1. Haemophilia

2. Cretinism

3. Cystic fibrosis

4. Thalasasemia 

Subtopic:  Mendelian Disorders: Hemophilia | Mendelian Disorders: Thalassemia |
 81%
Level 1: 80%+
AIPMT - 2005
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