Thalassemia risk in babies can be detected if genetic testing is done before pregnancy

The article is professionally consulted by Master, Doctor Nguyen Thi Hong On - Department of Obstetrics and Gynecology - Vinmec Phu Quoc International General Hospital.

Thalassemia (also known as Congenital hemolytic disease) has been causing serious consequences to the race, burdening the lives of patients and their families.

Thalassemia is the most common inherited hematologic disease in the world, is one of the dangerous blood diseases that, if not screened, monitored and intervened in time, can lead to many adverse effects on genetics and the development of the race. Normal people have 2 healthy genes, sick people have 2 disease genes, and carriers will have 1 disease gene and 1 healthy gene. Inherited autosomal recessive disease.

Due to a deficiency in the synthesis of a globin chain in the hemoglobin of red blood cells, the quality of red blood cells is impaired, which makes red blood cells more prone to rupture (hemolysis) leading to chronic anemia. Symptoms of illness such as:
Fatigue. Dizziness. The skin is paler than usual. Yellow skin and sclera. Dark urine. Slow-growing. Shortness of breath during exertion. If the patient is not treated early and adequately, many complications will appear due to anemia and iron overload caused on all organs, changing the patient's appearance.

Gene screening to detect pre-pregnancy diseases (including Thalassemia) is one of the contents of the pre-pregnancy health care and counseling program at Vinmec to have the opportunity and time to plan. a suitable pregnancy even if the mother is at risk of giving birth to a child with a genetic disease with the professional and dedicated support of experts in the fields of genetics, gene technology, obstetrics, paediatrics and support centers Vinmec's fertility support.
A normal woman carrying the Thalassemia gene can still get married and have children, but if she tries to marry someone who does not carry the disease gene, the odds of having a child without the gene will be higher, or give birth to a healthy child with a thalassemia gene. disease genes (healthy people carry disease genes). In the case of two healthy carriers marrying each other, the probability of having a child with a homozygous gene for the disease is 25%, this case will produce children with true thalassemia.
Although screening can be done at certain times during pregnancy, pre-pregnancy is the ideal time for screening to detect whether a spouse is a carrier of the gene.

To determine if you carry the disease gene or not, before you plan to have a baby, you need to have a complete blood cell analysis. If the test results are found to be small, hypochromic red blood cells suspected of carrying Thalassemia gene, more specialized tests such as Hemoglobin electrophoresis should be done to confirm whether Thalassemia gene is present or not. From there, the doctor will have specific advice and interventions for the patient to give birth to healthy babies.

Vinmec Times City has implemented a pre-pregnancy health care and counseling program with services including a screening program to detect healthy people carrying disease genes. As one of the leading units in the field of examination, counseling and intervention to support fertility, Thalassemia screening for couples preparing to enter marriage, or married couples who do not know yet. Do I carry the disease gene?
Although congenital hemolysis is a disease that is diagnosed and treated not too complicated, but this is a disease inherited from generation to generation, the cost of treatment is very expensive, so to give birth healthy baby in modern life, genetic screening before marriage is extremely important.