Thalassemia: Symptoms, prevention and diagnosis - Know about this genetic disease related to blood!

Thalassemia is a genetic disease, related to blood, in which abnormal hemoglobin is formed. Hemoglobin is a protein found in red blood cells, which works to deliver oxygen to the cells of the body. 

Thalassemia is a genetic disease related to blood, in which abnormal hemoglobin is formed. Hemoglobin is a protein found in red blood cells, which works to deliver oxygen to the cells of the body. In thalassemia, due to a lack of hemoglobin, the body does not get enough oxygen, which leads to anemia.

According to Dr. Vigyan Mishra, Lab Head, of Newberg Diagnostics, Noida, awareness about this disease and timely diagnosis is very important. Let us understand the symptoms, causes, prevention, and testing methods of Thalassemia in detail from Dr. Vigyan Mishra.

Symptoms of Thalassemia:

Fatigue: Feeling tired due to reduced ability to carry oxygen in the blood.

Weakness: Anemia and a low number of red blood cells cause weakness in the body.

Pale skin: A common symptom of anemia.

Difficulty in breathing: Due to the body not getting enough oxygen, there may be difficulty in breathing.

Problems with facial bones: In severe cases, especially in children, abnormalities in facial bones may be seen.

Causes of Thalassemia

Thalassemia is caused by mutations in the genes that control hemoglobin production. When this gene is defective, the body produces abnormal hemoglobin, which affects the formation of red blood cells.

Prevention of Thalassemia

Families with a family history of thalassemia should seek genetic counseling to understand their risk.

For couples with a family history, prenatal testing can detect whether the thalassemia gene is present in the fetus.

In PGD, embryos are tested for the thalassemia gene during in vitro fertilization.

Testing Methods for Thalassemia

Complete Blood Count (CBC): Measures the quantity and quality of red blood cells.

Hemoglobin electrophoresis: Identifies the different types of hemoglobin in the blood, including abnormal forms.

Genetic testing: Identifies the specific genetic mutation responsible for thalassemia.

Iron test: Determines the level of iron in the blood, which helps differentiate between thalassemia and iron deficiency anemia.

Bone marrow biopsy: This may be done to assess the severity of thalassemia and monitor the effectiveness of treatment.