Logo
 Home | Sitemap | Contact us | Search | Language
Left Right
Home >> Genetics >>Sickle Cell Anaemia>> Sickle Cell Anaemia

Sickle Cell Anaemia

1. It is a hereditary blood disease found in Africa and America.

2. This disease is characterised by the presence of sickle shaped RBC under low oxygen pressure.

3. The sickle shape of RBC is due to the presence of a defective haemoglobin called haemoglobin S.

4. Sickle cell anaemia is a recessive character caused by the recessive genes Hbs  Hbs. The normal adult haemoglobin is produced by dominant genes HbA HbA.

5. The heterozygous (HbA HbS) persons are normal and they are said to have sickle cell trait. They are the carriers of sickle cell gene. They have only mild symptoms of sickle cell anaemia.

Sickle Cell Anaemia

Sickle Cell Anaemia

6. The haemoglobin is formed of four polypeptide chains. Of these, two chains are similar and are called alpha chains and the other two are called beta chains. In normal adult haemoglobin and sickle cell anaemia haemoglobin, the alpha chains are similar. The difference is in the beta chain. Each beta chain contains 146 amino acids in a particular sequence. The difference is only in the 6th amino acid. In the normal adult haemoglobin the 6th amino acid is glutamic acid. But in sickle cell haemoglobin the 6th amino acid as valine.

1

2

3

4

5

6

HbA = Val

Histi 

Leuc

Threo

Prol

Glutamic    

Hbs="

Valine 


7. Sickle cells have low oxygen carrying capacity.
8. The sickle cells have very short life span. They tend to clump together and are destroyed.
9. The defective cells rupture and block the blood flow to tissues.
10. This disease also causes pain, fever, swelling, jaundice and kidney infection.
11. The sickle cell anaemia kills the victims after the age of 20.
12. In malarial areas the heterozygous persons (sickle cell trait HbA Hbs) are resistant to malaria.

 

Left Right