WHAT TO DO WHEN YOU ARE PREGNANT AND FIND OUT YOU HAVE GENE THALASSEMIA?

What is thalassemia?? What should pregnant mothers do when they discover they carry the Thalassemia gene?. Let's listen to Doctor Trong Thuc – Doctor working at Department of Obstetrics and Gynecology I – Thanh Nhan Hospital – Share in the following article.

This is an autosomal recessive congenital hemolytic disease.

• Severe form of alpha thalassemia causes serious consequences for the fetus such as hydrops fetalis, stillbirth... and causes danger to the mother such as edema, tăng huyết áp, tiền sản giật, băng huyết sau sinh…

Tần suất người Việt Nam mang gene alpha thalassemia: 1/22

• Thể nặng beta thalassemia gây thiếu máu nặng sau sinh và cần truyền máu thường xuyên…

Tần suất người Việt Nam mang gene beta thalassemia: 1/32

Therefore, Bộ Y tế Việt Nam khuyến cáo tất cả các thai phụ nên sàng lọc bệnh lý thalassemia trước sinh/trước mang thai/trước kết hôn.

Prenatal screening for thalassemia pathology can be done by a blood count test or a test to find hidden thalassemia gene mutations of the couple..

• When ONLY one of the couple carries the gene, the risk of the fetus carrying the gene is 50%, 50% The rest do not carry the gene. In this situation, pregnant women do not need to do any further tests. Babies should be screened for thalassemia after birth to advise on genetic potential for the next generation.

• When BOTH 2 If a husband and wife both carry the alpha or beta thalassemia gene, the risk of the fetus having a severe form is 25%, 50% The fetus will carry the same genes as the parent, and 25% The child will not carry the gene. Therefore, In this case, it is necessary to perform a diagnostic test for the fetus using a placental spine biopsy 11-14 week or amniocentesis later 16 week.

So with the mother's abnormal thalassemia gene screening results, what should you do next??

Firstly, You need to do a hidden gene test for your husband to determine whether he carries the thalassemia gene or not?

When both 2 Husband and wife both carry the thalassemia gene, You will receive detailed advice about the possibility of your fetus having a severe form of thalassemia.

If the fetus is at risk of severe fetal illness, You will be advised to do a placental biopsy or amniocentesis to diagnose the fetus.

So, during pregnancy to ensure a safe pregnancy: You should have regular prenatal checkups as scheduled.

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