Thalassemia : Definition, Pathogenesis, Treatment and MCQs for NEET, GPAT, CSIR NET, UPSC Exam

Thalassemia : Definition, Pathogenesis, Treatment and MCQs for NEET, GPAT, CSIR NET, UPSC Exam

” The thalassemia is a heterogeneous group of mendalian disorder, all characterized  by lack of or decreased synthesis of either the alpha or the beta globin chain of hemoglobin A (α2β2).”

1.] Thalassemia, unlike haemoglobinopathies which are the qualitative disorders of hemoglobin, are quantitative abnormalities of polypeptide globin chain synthesis.


In α – thalassemia major, the obvious cause of anemia is the inability to synthesis the adult hemoglobin, while in alpha thalassemia trait there is reduced production of normal adult hemoglobin.


1.] α – thalassemia is a disorder in which there is defective synthesis of α – globin chain resulting in decreased production of hemoglobin that contain α – chain i.e; HbA, HbA2 and HbF.

2.] Most commonly α – thalassemia is due to the deletion of one or more of the α – chain genes located on short arm of chromosome – 16.

3.] α – thalassemia is classified into 4 – types :

  • Four α – gene deletion : Hb Brat’s hydrops foetalis.
  • Three α – gene deletion : HbH disease.
  • Two α – gene deletion : α – thalassemia trait.
  • One α – gene deletion : α – thalassemia trait (carrier).


The abnormality common to all β – thalassemia is a total lack or a reduction in the synthesis of structurally normal β – globin chain with unimpaired synthesis of alpha chains.


1.] Most of the β – thalassemia arises from different types of mutation of β – globin chain resulting from single base changes, like the βº is used to indicate the complete absence of β – globin chain synthesis etc.

2.] Some of the important mutation having effects on β – globin chain synthesis are under :\

  • Transcription defect
  • Translation defect
  • mRNA splicing defect

3.] Depending upon the extend of reduction of β – thalassemia chain synthesis, there are three types of β – thalassemia :

A.) Homozygous form : β – thalassemia major, it is the most severe form of congenital haemolytic anemia. It is further of two types :

  • βº thalassemia : complete absence of β – chain synthesis.
  • β+ thalassemia : complete suppression of β – chain synthesis.

B.) β – thalassemia intermedia : It is β – thalassemia of intermediate degree of severity that does not require regular blood transfusion.

C.) Heterozygous form : β – thalassemia minor (trait), it is a mild asymptomatic condition in which there is moderate suppression of β – chain synthesis.


Current and future alternative therapies for beta-thalassemia major - ScienceDirect

The above image is taken for education purpose only from



1.] This is not a symptom of thalassemia?

a. Abdominal pain

b. Weakness and slow growth

c. Dark urine

d. Facial bone deformation

2.] Which of the following is the cause of α-thalassemia?

a. Deletion of alpha gene

b. Deletion of beta gene

c. Excess of alpha gene

d. Single amino acid substitution in alpha chain

3.] True about beta thalassemia trait is?

a. Increased HbF

b. Increased HbA2

c. Microcytosis

d. Severe anemia

e. Target cell

4.] In α-thalassemia, which of the following is a finding?

a. No beta-chain

b. Excess alpha-chain

c. No alpha-chain

d. Relative of excess of beta, gamma, and delta chain

5.] All are seen in thalassemia major except?

a. Transfusion dependency

b. Splenoheptatomegaly

c. Ineffective erythropoiesis

d. Macrocytic anaemia

6.] This type of thalassemia disease is cooley anaemia?

a. Alloimmunization

b. β-thalassemia

c. α-thalassemia

d. None of the above

7.] Treatment given to thalassemia patients?

a. Stem cell or bone marrow transplant

b. Blood transfusion

c. Iron chelation

d. All of the above

8.] Possible complication of thalassemia?

a. Infection

b. Iron overload

c. Only b

d. Both (a) and (b)

9.] The complication that occur in severe thalassemia?

a. Enlarged spleen

b. Bone deformities

c. Problem with heart

d. All of the above

10.] Factors leading to an increase in the risk of thalassemia?

a. Certain ancestry

b. Family history of thalassemia

c. Only b

d. Both (a) and (b)



1.] (a) Abdominal pain

2.] (a) Deletion of alpha-gene

3.] (a), (b), (c) and (e)

4.] (d) Relative of excess beta, gamma and delta chain

5.] (d) Macrocytic anaemia

6.] (b) β-thalassemia

7.] (d)

8.] (d)

9.] (d)

10.] (d)


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1.] Textbook of Pathology By Harsh Mohan; 7th edition; Page no.296 – 301.

2.] Robbin’s Basic Pathology; 5th edition; Page no. 596 – 601.

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