Thalassemia is a hereditary disorder affecting red blood cells, passed down from parents to their children. If parents have a history of thalassemia, it is recommended to screen their children to determine whether they are at risk of developing the condition.

Understanding Thalassemia

Thalassemia is a genetic blood disorder that results in insufficient hemoglobin production. Hemoglobin is a crucial component of red blood cells responsible for carrying oxygen throughout the body. A deficiency in hemoglobin leads to reduced oxygen levels, which can cause fatigue and weakness—commonly known as anemia.

In mild cases of thalassemia, special treatment may not be necessary. However, individuals with severe thalassemia may require regular blood transfusions to manage the condition.

Tests Used to Diagnose Thalassemia

Thalassemia can be detected early, even in infancy. If a baby is at risk of inheriting thalassemia, prenatal screening during pregnancy can help determine the likelihood of the condition.

Prenatal Tests

Several tests can be performed during pregnancy to assess a child's risk of developing thalassemia, including:

Chorionic Villus Sampling (CVS)

According to the NHS, one of the tests available for detecting thalassemia in unborn babies is chorionic villus sampling (CVS). This test is typically conducted between weeks 10 and 13 of pregnancy.

Amniocentesis

Amniocentesis involves collecting a small amount of amniotic fluid from the uterus. This test helps detect genetic disorders and birth abnormalities in the fetus. It is usually performed between weeks 15 and 20 of pregnancy.

Postnatal Tests

Apart from prenatal screenings, thalassemia testing can also be conducted after birth or during childhood if symptoms are present. Some of the key diagnostic tests include:

Complete Blood Count (CBC)

A complete blood count (CBC) is used to measure hemoglobin levels and assess red blood cell production. Individuals with thalassemia generally have fewer red blood cells and lower hemoglobin levels than normal. Additionally, their red blood cells tend to be smaller in size compared to healthy individuals.

Reticulocyte Count Test

The reticulocyte test measures the number of immature red blood cells to evaluate how well the bone marrow is producing new blood cells.

In thalassemia patients, the number of immature red blood cells increases, indicating that the body is attempting to compensate for anemia caused by blood loss or defective red blood cell production.

Iron Level Test

Although individuals with thalassemia are prone to anemia, those with chronic thalassemia who undergo frequent blood transfusions often experience iron overload. Excess iron can accumulate in vital organs, leading to complications. Therefore, an iron level test is necessary to monitor iron buildup in the body.

Hemoglobin Electrophoresis

Electrophoresis is a blood test that determines the types of hemoglobin present in the bloodstream. Using electrical currents, this test helps distinguish between normal and abnormal hemoglobin variants. The results indicate the quantity and type of hemoglobin, which helps in diagnosing thalassemia.

Thalassemia screening can be conducted during pregnancy or when a child exhibits signs of the disorder. If parents have a history of thalassemia and their child shows symptoms such as growth issues, persistent fatigue, pale skin, or dark-colored urine, seeking medical evaluation is essential. For additional health information and medical consultation, you can also use the Ai Care application to get expert guidance.

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