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Thalassemia Trait Screening: a Real Need in the Community

Author: Dr. Parth R Goswami - Blood Health  

Thalassemia is a genetic disorder where there is abnormal hemoglobin production. It leads to a condition known as hemolytic anemia, in which RBC breakdown occurs. Mild jaundice can also occur.

There are two types of thalassemia:

  1. Thalassemia minor: where the patient inherits the gene from either parent and becomes a carrier, but does not have symptoms.
  2. Thalassemia major: where the patient inherits a copy from both parents and has symptoms of severe anemia soon after birth. Here, there are several subtypes.

Thalassemia minor patients do not require blood transfusion. They can live normally, whereas thalassemia major patients need frequent blood transfusions, almost every 20 to 30 days. So, the detection of thalassemia minor might happen retrospectively only when a thalassemia major child is born.

To avoid thalassemia major child, it is really necessary to investigate for thalassemia minor before marriage or at least before conception. There are various screening methods, but ideally, to confirm thalassemia minor, HPLC (high-performance liquid chromatography) electrophoresis is the gold standard test.

So, both partners should be investigated with HPLC electrophoresis from a blood sample. 9.2 ml of blood is needed, and it is taken in EDTA vaccuette. CBC and peripheral smear examination also can guide and can give a clue for thalassemia minor diagnosis but they are not confirmatory. CBC shows low MCV and high RBC, and peripheral smear shows target cells and fragmented RBC.

If thalassemia minor screening has not been done before marriage, the investigation should at least be done before conception or before planning a pregnancy.

Due to lack of awareness, if the screening has not been done before marriage or conception, in the antenatal check-up, the screening should be done for the mother in the first trimester. The child's thalassemia status can also be detected in the antenatal period by invasive procedures like amniocentesis or cordocentesis. Many international organizations are working to subsidize charges for the screening test.

A thalassemia major child requires frequent blood transfusions, and the lifespan is also shortened. This increases the financial load on the family. So, this simple article is to create awareness among all the readers to kindly investigate for thalassemia minor, ideally before marriage.

For more information consult a thalassemia specialist online --> https://www.icliniq.com/ask-a-doctor-online/hematologist/thalassemia

Last reviewed at: 07.Sep.2018

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