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Symptoms & Treatment

Thalassemia – Symptoms, Types, Diagnosis, and Prevention

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Thalassemia is an inherited disorder of red blood cells. It means the children get it from their parents as the defects in the genes are present in the DNA. So because of the defect in the gene abnormal hemoglobin is produced in the body. This hemoglobin containing red cells are destroyed by the body hence, the person experiences symptoms of anemia due to low hemoglobin. Depending upon the number of genes affected a person can be homozygous or heterozygous. Many patients who have trait are majorly asymptomatic and are diagnosed accidentally on routine examination.

Symptoms:-

Fatigue
Weakness
Pale skin
Facial bone deformities
Slow growth
Dark urine

Types

The type of thalassemia depends on the no. of gene mutation.
Broadly, they are classified as Alpha- thalassemia & Beta thalassemia

Diagnosis

Complete blood count – this test gives an idea about the hemoglobin produced by the body, anemia & severity of anemia.
Peripheral blood smear examination – this helps in identifying the type of anemia & also some different shapes of red blood cells which would help in differing the patient for further testing.
Hemoglobin electrophoresis or HPLC – this test helps in separating abnormal hemoglobin in the blood and thus helps in assessing the type of thalassemia.
DNA testing – this is done for confirmation along with parental screening.
Management For patients who experience mild or no symptoms i.e those who are carriers need no treatment except regular and appropriate intake of folic acid.
For homozygous patients, repeated blood transfusion are needed. So along with blood transfusions regular iron chelation therapy, assessment of growth of the child is needed. In long term, bone marrow transplant can be considered.

Prevention

It is recommended that all pregnant females to be screened for thalassemia. Genetic counselling &
genetic testing is advised for families at high risk. Every couple must undergo genetic evaluation before
marriage as prevention is better than cure.

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