Sickle Cell Anemia : Definition, Pathogenesis, Symptoms, Treatment And MCQs for NEET, GPAT, CSIR NET JRF

Sickle Cell Anemia : Definition, Pathogenesis, Symptoms, Treatment And MCQs for NEET, GPAT, CSIR NET JRF

” Sickle cell anemia is the prototype of hereditary hemoglobinopatghies characterized by the production of an structurally abnormal hemoglobin.”

1.] In sickle cell anemia the shape of the RBC become sickle like because of which proper oxygen is not carried out by the RBC.

2.] People who have sickle cell anemia were not infected by malaria.

3.] The defect is caused by the substitution of Glutamic acid (Glu) by Valinine (Val) at the sixth position of beta globin chain of the hemoglobin molecule.

21 Sickle Cell Anemia Symptoms, Genetics, Treatment, Life Expectancy

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Following are the abnormalities of Sickle cell anemia :

  • Molecular : In sickle cell anemia, there is a basic genetic defect in which the single point mutation in one amino acid out of 146 in hemoglobin molecule i.e; there is a substitution of valine for glutamic acid at 6 – residue position of the beta – globin producing Hbalpha2beta2.

Pin on genetics

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  • Mechanism of sickling : During deoxygenation, the red cell containing HbS change from biconcave or sickled shaped cell. This process termed sickling occurs both within the intact red blood cell and in vitro in free solution. The mechanism responsible for sickling upon deoxygenation of HbS – containing red cell is the polymerization of the deoxygenated HbS which aggregates to form elongated rod – like polymer.
  • Reversible – Irreversible sickling : The oxygen dependent sickling process is usually reversible. However, damage to red blood cell membrane leads to formation of irreversibility sickled red cell even after they are exposed to normal oxygen tension.


Following are the symptoms of sickle cell anemia :

  • Stroke
  • Retinopathy
  • Anemia
  • Aplastic crisis
  • Infection
  • Acute chest pain
  • Acute abdominal pain
  • Splenic atrophy
  • Haematuria
  • Priapism
  • Chronic leg ulcers and ischemic necrosis bone


Following are the medication given in the sickle cell anemia :

  • Prophylactic penicillin (125 mg orally twice daily until 3 yrs. of age)
  • Prophylactic penicillin (250 mg twice daily until 5 yrs. of age)
  • Folic acid (1 mg daily)
  • Hydroxyurea (15 mg / kg as a single dose daily)
  • Use of non – steroidal anti – inflammatory drugs (NSAIDs) or acetaminophen.



1.] Which part of the blood is affected in sickle cell anemia ?

a. WBC

b. Hemoglobin

c. RBC

d. Platelets

2.] The hemoglobin in patients with sickle cell disease is of the HbS type ?

a. True

b. False

3.] Sickle cell anemia is the result of which mutation in hemoglobin gene ?

a. Frame shift

b. Point

c. Deletion

d. None of the above

4.] The shape of normal RBC is ?

a. Spherical

b. Sickle shape

c. Crescent shape

d. Disc shape

5.] The shape of RBC of sickle anemic patient is ?

a. Sickle shape

b. Spherical

c. Crescent shape

d. Disc shape

6.] Patients with sickle cell disease may be prone to severe infection because ?

a. Sickle cell disease damages the spleen

b. Sickle cell disease damage the heart

c. Sickle cell disease damages the brain

d. None of the above

7.] Sickle shaped RBC pass easily through small blood vessels ?

a. True

b. False

8.] A drug that is used in sickle cell disease is ?

a. Sulfonylurea

b. Hydroxyurea

c. Sulfurylurea

d. Phosphorylurea

9.] Sickle cell disease is due to ?

a. Point mutation

b. Frame shift mutation

c. Non sequence mutation

d. None of the above

10.] Autosomal recessive disease are ?

a. Thalassemia

b. Sickle cell anemia

c. Cystic fibrosis

d. All of the above



1.] (b) Hemoglobin

2.] (a)

3.] (b) Point

4.] (d) Disc shaped

5.] (a) Sickle shape

6.] (a) Sickle cell disease damages the spleen

7.] (b)

8.] (b) Hydroxyurea

9.] (a) Point mutation

10.] (d)


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1.] Textbook of Pathology By Harsh Mohan; 7th edition; Page no.294 – 296.

2.] Robbin’s Basic Pathology; 5th edition; Page no.592 – 596.


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