Early screening of Thalassemia - A need for couples who are both disease gene carriers.

The "dream-like" happiness of a couple both carrying disease gene

Mr. Huy (1983) and Ms. Doanh (1995) in Soc Son, Hanoi had spent about 7 years looking for their children. It can be said that the journey to find their children is more difficult than other couples because Mr. Phu’s legs were bilaterally paralyzed after an accident, and all personal activities almost depend entirely on others. When visiting the hospital, the doctor advised the family to perform a number of tests to find the cause, and found that both Mr. Phu and Ms. Doanh carried the thalassemia gene (congenital hemolysis).

Moreover, 2 miscarriages, 3 failed embryo transfers created a lot of pressure for him and his wife and the treating doctors. Sad, disappointed, but the desire for children and the love that had been wrapped up for 7 years motivated him and his wife to continue to accompany the Vietnamese-Belgian Hospital of Andrology and Infertility (Vietnam -  Belgium IVF).

The happy small family of Mr. Huy and Ms. Doanh

Despite the difficulties, they are still very persistent. Perhaps it was that persistence, perseverance and belief in doctors of the Vietnam - Belgium IVF that created a miracle in the 4th embryo transfer. Baby Minh Dat is the sweet fruit for Mr. Phu and Ms. Doanh's diligent journey to find their children.

However, because economic conditions did not allow it, when doing IVF, they did not perform the preimplantation genetic diagnosis technique. In the case of both husband and wife carrying the thalassemia gene and giving birth naturally, there is a 25% chance that the child will be born with the disease, 50% risk of carrying the disease gene and 25% chance that the healthy child will not carry the disease gene.

With the desire to share, help and support part of the funds to help Mr. Huy's family reduce financial pressure, GENTIS sponsored a thalassemia test to screen Minh Dat early. Fortunately, the results showed that the baby only carried the disease gene.

Receiving the Thalassemia test results, Ms. Doanh choked up emotionally and shared, "My family is grateful and feels very lucky than many people because the baby only carries the disease gene. I wish fathers and mothers who are on the way to find their children will soon pick sweet fruits."

So how is Thalassemia diagnosed?

According to Dr. Ngo Thu Ha (Department of Obstetrics and Infertility of Vietnam Belgium IVF), to diagnose Thalassemia, we should first pay attention to the clinical manifestations and appearance of the patient such as a protruding forehead, flat nose, protruding teeth, enlarged liver, jaundice,... Next, we will do a complete blood count test to check the size of red blood cells. This value is reflected in the mean corpuscular volume index (MCV) and the mean corpuscular hemoglobin (MCH) in your complete blood count test (CBC). If your MCV is <= 85fl and your MCH <=28pg, you are at high risk of carrying a gene mutation that causes thalassemia leading to anemia.

Dr. Ngo Thu Ha (Department of Obstetrics and Infertility of Vietnam Belgium IVF) examines and consults patients. 

To determine if you have thalassemia, it is necessary to do a hemoglobin electrophoresis test and determine the content of ferritin in the serum, a thalassemia gene test. The implementation of this test will help accurately identify patients with the alpha or beta Thalassemia gene, support doctors in diagnosing and treating the disease effectively, as well as appropriate reproductive advice.

In case the parents are both carriers of the Thalassemia gene, the doctor will advise the patient to do IVF and genetic screening before PGT embryo transfer. This technique helps to select embryos that do not carry disease genes to transfer into the mother's uterus to give birth to healthy babies, contributing to improving the quality of the population.

Currently, GENTIS is accompanying many hospitals and IVF centers to carry out genetic screening before embryo transfer to help many families carrying the disease gene give birth to healthy children. Thalassemia testing at GENTIS uses molecular biology, PCR, and gene sequencing methods to simultaneously identify 21 α-thalassemia and β-thalassemia mutations and rare mutations that cause thalassemia in Vietnamese population. At the same time, homozygous or heterozygous mutant genotypes can be detected.

Standardized Thalassemia gene testing at GENTIS.

Notably, the Thalassemia test at GENTIS showed screening results that detected disease genes with 99% accuracy. In particular, GENTIS gathers a team of scientists, experienced consultants in the field of genetics, and a team of professional technicians and consultants. Contact hotline 1800 2010 for the most dedicated advice and testing!