Should Your Child Be Tested for Thalassemia? A Guide for Parents

Mediterranean anemia

Both my husband and I have thalassemia; he has beta-thalassemia and I have alpha-thalassemia.
We currently have two daughters.
Recently, our older daughter had a health survey at school that included an option to indicate thalassemia.
I am concerned about whether she may have it, and I would like to know if it is advisable for her to undergo testing for confirmation to ensure her health and growth.
Will the testing be out-of-pocket? (Previously, when our daughter was ill, she had a blood test, and I forgot which index was either 9 or 8.
The doctor suspected that we had not been supplementing her with iron, and she was a premature infant born at 29 weeks + 1 day.)

Quan Quan, 30~39 year old female. Ask Date: 2016/09/07

Dr. He Dongjin reply Cardiology

Hello, your daughter has been diagnosed with Mediterranean anemia.
It is advisable for her growth and development to undergo further evaluation by a hematologist, as this will provide more accurate information.
There is no need for her to pay out of pocket for health screenings at Changhua Hospital.
We care about your well-being.

Reply Date: 2016/09/07

More Info

When it comes to thalassemia, a genetic blood disorder that affects hemoglobin production, it is crucial for parents, especially those with a family history of the condition, to be vigilant about their children's health. Given that both you and your husband have Mediterranean anemia (thalassemia), it is understandable that you are concerned about your daughters' health, particularly your older daughter who is undergoing a health survey at school.

Thalassemia is inherited in an autosomal recessive manner, meaning that a child must inherit two copies of the mutated gene (one from each parent) to exhibit symptoms of the disease. If both parents are carriers of thalassemia (which seems to be the case here, with you being alpha thalassemia and your husband beta thalassemia), there is a 25% chance with each pregnancy that the child will inherit both mutated genes and have thalassemia major, a more severe form of the disease. There is also a 50% chance that the child will be a carrier (thalassemia trait) and a 25% chance that the child will not inherit the condition at all.

Given your family history and your daughter's previous health issues, including her being a premature infant and having low hemoglobin levels in the past, it would be prudent to have her tested for thalassemia. Early diagnosis can help manage the condition effectively and ensure that she receives the necessary care and monitoring throughout her life.
Testing for thalassemia typically involves a complete blood count (CBC) and hemoglobin electrophoresis, which can determine the type of hemoglobin present in the blood and identify any abnormalities. If your daughter is found to have thalassemia trait, she may not require treatment but will need to be monitored for any potential complications. If she has thalassemia major, treatment options may include regular blood transfusions and chelation therapy to manage iron overload.

As for the cost of testing, it can vary depending on your location and the healthcare provider. In many cases, health insurance may cover the cost of genetic testing, especially if there is a documented family history of thalassemia. It is advisable to check with your healthcare provider or insurance company regarding coverage and out-of-pocket expenses.

In conclusion, given your family history of thalassemia and your daughter's previous health concerns, it would be wise to pursue testing for her. Early detection can lead to better management of the condition and provide peace of mind for you as parents. If you have any further questions or concerns, do not hesitate to reach out to your healthcare provider for guidance.

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