Prenatal Screening for Thalassemia

Modern medicine constantly expands upon how medical health conditions are identified and treated. Prenatal care is no exception. Pregnant couples have numerous tools available to use. These tools will help them ensure their child receives the best health possible and identify possible health conditions before the baby is born.

One such tool is prenatal genetic testing. Prenatal genetic testing is a stepping-stone to help determine what may be genetically inherited by the baby. As well as avenues that families can take to help keep babies healthy. Ahead, the ins and outs of thalassemia prenatal genetic testing.

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A brief overview

Thalassemia is an inherited blood disorder of hemoglobin. Hemoglobin is a protein in red blood cells. Red blood cells are dysfunctional without enough hemoglobin, and Thalassemia is a blood disorder that doesn't make enough protein. Thalassemia "types" refer to the alpha or beta portion of the affected hemoglobin. Additionally, Thalassemia has multiple severity levels, including a trait. The severity levels are described as minor, intermedia, and major.

Thalassemia trait means a person is not symptomatic of the genetic condition but does have the capability to genetically pass it to their children. The type of inherited Thalassemia depends on what kind of trait is inherited. For example, an individual who receives a beta thalassemia trait from both biological parents will likely have beta thalassemia major. Other names associated with types of Thalassemia include:

• Cooley's Anemia
• Constand Spring
• Hemoglobin Bart hydrops fetalis

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What does the test involve?

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The first prenatal screening for Thalassemia is a prenatal DNA screening (blood draw). Suppose the test indicates a possible concern for Thalassemia. In that case, the pregnant person is recommended to take a chorionic villus sampling (CVS) test. CVS retrieves samples of chorionic villi from the placenta. The process is performed in two ways: transcervical (through the cervix) and transabdominal (through the abdominal wall).

Both CVS methods are invasive and can be performed as early as ten weeks. People who often consider CVS tend to have/be:

• Positive prenatal screening test results
• Older than 35
• Had positive results of a chromosomal condition in previous pregnancies
• Family history of genetic conditions

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How to find out if you're a carrier?

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A primary step to identifying if you may be a carrier of Thalassemia is to investigate your family's medical history. Since Thalassemia is an inherited condition, a clue to possibly being a carrier is if someone in your family has the condition. Parts of the world that are most at risk of Thalassemia include:

• Mediterranean countries
• Asia
• Africa
• Middle East

Identifying if or what type of Thalassemia someone has is typically performed by blood analysis. The blood test analysis involves a complete blood count (CBC). The CBC analyzes multiple components of red blood cells like:

• Shape
• Color
• Size
• Number of red blood cells

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What are the risk factors?

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Prenatal genetic screening and tests provide numerous benefits for identifying protective health measures for a pregnant person and baby. However, it is important to be aware of the associated risks. As previously mentioned, the two prenatal genetic tests after the blood draw screening are part of the CVS method. Due to its invasive methods, some various risks include:

• Miscarriage (.22%)
• Rh sensitization (a risk of Rh-negative blood producing Rh antibodies and crossing the placenta)
• Infection (uterine)

Some symptoms that can occur after the procedure include:

• Heavy bleeding
• Uterine infections
• Fever
• Vaginal leaking

There are also rare chances where the test proves incorrect. However, over two million people in the US are thalassemia trait carriers. Therefore, prenatal genetic tests are vital in determining if you or your partner are unknown carriers when the results of genetic screenings raise concerns.

Treatment options for Thalassemia

Treatment options for Thalassemia vary depending on the condition's severity. The most predominant symptom of Thalassemia is anemia. Treatment for anemia is to provide more red blood cells for carrying oxygen through blood transfusions. Supplemental B (folic acid pills) is also prescribed to help develop red blood cells. Chelation therapy may be needed to help remove excess iron produced by blood transfusions.

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Stem cell therapy for Thalassemia

Hematopoietic stem cell transplants may be an effective treatment for Thalassemia. This treatment is typically done through bone marrow transplants. New stem cells grow within the bone marrow and provide restorative properties for creating healthy red blood cells and hemoglobin. Children receive the treatment through a central venous catheter and most often do not experience side effects or mild severity if they do.

Bank your stem cells with Anja Health

Every parent wants the best for their children. Providing the best care for your child includes monitoring for possible health conditions that could be genetically inherited, like using prenatal screening to detect Thalassemia. Thalassemia destroys red blood cells and causes anemia and other associated health effects. Not only is monitoring for this condition in pregnant and nonpregnant persons critical but so is preparing for the possibility of treating a genetic condition.

Stem cell transplantation provides numerous restorative and regenerative capabilities. With stem cell transplantation, people with Thalassemia can regain the ability to produce healthy red blood cells again. The key to this success is to have available stem cells ready when treatment is needed. Contact Anja Health to find out how your family can future-proof your family's health.

Resources

• https://www.cdc.gov/ncbddd/thalassemia/facts.html

• https://www.thinkgenetic.com/diseases/alpha-thalassemia/diagnosis-testing?expand=1

• https://www.mayoclinic.org/tests-procedures/chorionic-villus-sampling/about/pac-20393533

• https://www.thalassemia.com/genetics-trait.aspx#gsc.tab=0

• https://www.cdc.gov/ncbddd/thalassemia/treatment.html

• https://www.thalassemia.com/documents/treatment-BMT-factsheet.pdf#:~:text=The%20purpose%20of%20stem%20cell%20transplantation%20is%20to,temporarily%20not%20be%20able%20to%20make%20blood%20cells