All about the disease: Thalassemia

What is THALASSEMIA ?

 Thalassemia is an inherited blood disorder  i.e., passed from parents to children through genes caused when the body doesn’t make enough of a protein called hemoglobin, an important part of red blood cells. When there isn’t enough hemoglobin, the body’s red blood cells can’t function properly and they last shorter periods of time, so there are fewer healthy red blood cells traveling in the bloodstream.



What are the symptoms ???????
  • R.B.C is started to destroy at a high rate and for this Anemia can be seen.
  • Spleen and Liver become large in size than the normal  (Larger Spleen is known as Splenomegaly and Large Liver is known as Hepatomegaly)
  • The bone marrow becomes defective, resulting in fractures.
  • Lack of oxygen in the body of the patient (Hypoxia)
  • The affected person becomes weak.
Types and Causes :-

Thalassemia can be categorized  in two types:-

(i)Alpha- Thalassemia :-

    It occurs when the defect in the production of the alpha polypeptide chain results from a disruption of the four Alpha Globin genes on the short arm of Chromosome 16

        Alpha  Alpha / Alpha  Alpha    ----> Normal

        Alpha  Alpha / Alpha -      ------> Less Thalassemia

         Alpha  - / Alpha  -      -------> Alpha Thalassemia Minor I

        Alpha  Alpha / -  -      ------>  Alpha Thalassemia Minor II

       Alpha  - / -  -      ------>  Chronic Hemolytic Anemia

        -  - / -  -      ------>Hydrops fetalis


(ii) Beta Thalassemia:-

    A mutation in one or both of the two normal genes on the long arm of chromosome 11 causes a defect in chain production called Beta Thalassemia.

        Beta / Beta -----> Normal

         Beta / Beta -----> Beta Thalassemia Minor

         Beta / Beta -----> Beta Thalassemia Major

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