Thalassemia
Defect leading to thalassemia lies in –
| A |
Haemoglobin |
|
| B |
Osmotic fragility |
|
| C |
RBC membrane |
|
| D |
Platelets |
Defect leading to thalassemia lies in –
| A |
Haemoglobin |
|
| B |
Osmotic fragility |
|
| C |
RBC membrane |
|
| D |
Platelets |
Ans. is ‘a’ i.e., Haemoglobin
Disorders of hemoglobin
o Disorders of hemoglobin may be of two types : ‑
Qualitative defect of hemoglobin (hemoglobinopathy)
o Hemoglobinopathies are disorders of hemoglobin, characterized by a defect that results in abnormal structure of one of the globin chain of hemoglobin.
o Examples are : ‑
Sickle cell anemia, HbC, HbE, HbD-Punjab, HbO-Arab, Hb lepore.
Quantitative defect of hemoglobin
o These disorders are characterized by a defect that results in decreased rate of synthesis of one of the globin chain of hemoglobin.
o Example – Thalassemia.
Thalassemia is inherited as:
September 2008
| A |
Autosomal dominant |
|
| B |
Autosomal recessive |
|
| C |
X-linked dominant |
|
| D |
X-linked recessive |
Thalassemia is inherited as:
September 2008
| A |
Autosomal dominant |
|
| B |
Autosomal recessive |
|
| C |
X-linked dominant |
|
| D |
X-linked recessive |
Ans. B: Autosomal recessive
Thalassemia is an inherited autosomal recessive blood disease. Some other autosomal recessive disorders:
- Cystic fibrosis
- Phenylketonuria
- Galactosemia
- Wilsons disease
- Sickle cell anemia
- Ehler-Danlos syndrome
- Friedreich ataxia
Thalassemia gives protection against ‑
| A |
Filaria |
|
| B |
Kala-azar |
|
| C |
Malaria |
|
| D |
Leptospirosis |
Thalassemia gives protection against ‑
| A |
Filaria |
|
| B |
Kala-azar |
|
| C |
Malaria |
|
| D |
Leptospirosis |
Ans. is ‘c’ i.e., Malaria
- Types of anemia that have protective effect against P. falciparum malaria : –
- G6PD deficiency, Sickle cell anemia, Thalassemia, HbC, Pyruvate kinase deficiency
