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Struggle from beginning of the life due to an inherited disease called Thalassemia

2016-10-22 21:26:06

- Shapes of Blood
    - Shapes of Blood

Some diseases begin from dawn of the life and become very sensitive, as they are related with blood. Blood related diseases are too complex to cure, Thalassemia is one of them.


The word thalassemia emerged from two Greek words ‘Thalassae’ means ‘Blood’ and ‘Hamia’ means ‘Sea’ collectively, Sea in the Blood. However, it is an inherited disorder, one type of hemoglobinopathy and causes by abnormal hemoglobin chains which do not function like normal blood, as a result patients suffer from severe lack of functional blood. The decreased amount of hemoglobin in blood lead to Anemia, which reduces oxygen-carrying capacity in blood, also causes ineffective erythropoiesis, destruction of erythroblast in the bone marrow and erythrocytes in the peripheral blood. However, there are two types of globin chains in hemoglobin, i.e. α-globin chains and β-globin chains. If one or more chain becomes abnormal then it turns into thalassemia or carrier of thalassemia. Globins are proteins, come from mRNAs of globin-genes.


About 200 point mutations (Single nucleotide polymorphism) are mainly responsible for thalassemia. Alpha-globin genes are located in chromosome 16 and β-globin genes are in chromosome 11. β-thalassemia has three categories, β-thalassemia minor, β-thalassemia intermediate and β-thalassemia major. Generally, β-thalassemia major shows various ferocious signs and symptoms. Although this disease is spread all over the world but every place is not epidemic. The first thalassemic patient was diagnosed in Turkey. South Asia, Mediterranean Sea area and Iran are considered as thalassemia belt. The treatment of thalassaemia is very complex, till now blood transfusion is more efficient; moreover, bone marrow transplantation is going on in some case and gene therapy and induced Pluripotent Stem Cell (iPSC) therapy are new concepts beside blood transfusion. The treatments are not beyond of side effects such as, iron overload, heart failure, kidney damage, etc.

To make awareness among the people about thalassemia world widely the World Health Organization (WHO) has declared 8th May as International Thalassemia Day since 1994.   


Syed Raju Ali

Email: syedrajuali@gmail.com

Editors Notes:    0

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