Why is Thalassemia genetic testing necessary?

This is an automatically translated article.

The article is professionally consulted by Master, Doctor Truong Thanh Tam - Pediatrician - Department of Pediatrics - Neonatology - Vinmec Danang International General Hospital. Dr. Tam has 15 years of experience working in the field of Pediatrics.
Thalassemia still does not have a cure for the disease, mainly lifelong symptomatic treatment. Thalassemia gene testing before pregnancy is the best way to protect the breed and reduce the family and social burden with this disease.

1. Vietnam has a very high rate of Thalassemia

In fact, our country is in the group of countries with high Thalassemia prevalence in the world. Alarmed areas include Southern Europe, South Asia, North Africa, Southeast Asia...
According to World Federation of Thalassemia statistics, the global population currently has about 1.5% of the population carrying the disease gene. About 60,000 new born babies are diagnosed with the disease. In Vietnam alone, there are about 12 million people carrying the disease gene (accounting for nearly 10% of the population) and every year, 2,000 new born babies need treatment.
More than 12 million people carrying Thalassemia gene in our country are distributed in all provinces, cities, and all ethnic groups. In particular, ethnic minorities have the highest rate of people infected with the disease, and it is difficult to treat.
Any of us could be carrying the disease gene, because the total of 12 million carriers in the community is extremely large. High risk of affecting the race of the country.

2. Thalassemia – burden on family and society

Currently, the whole country has over 20,000 people with Thalassemia requiring lifelong treatment. Each year, about 8,000 more children are born with thalassemia, of which about 2,000 are severe enough to require lifelong treatment and about 800 cannot be born.
With over 20,000 patients currently in need of this treatment, we need more than 2,000 billion VND per year, a huge amount of money.

Of the total number of patients with the disease, only about 50% have access to treatment, but the monitoring and treatment is not good, so the life expectancy is not high. There are people who only go to the hospital once when they are diagnosed with the disease, then self-treat and overcome because the hospital fees and blood transfusion costs are too high.
Thalassemia patients have very severe symptoms due to anemia and iron retention in the body. Therefore, people with the disease often have slow physical growth, and many complications due to anemia and iron overload.
Therefore, Thalassemia patients have to suffer a lot of disadvantages, the treatment process is arduous, affecting the patient's life, family and the whole society. Thalassemia disease is a burden both physically and mentally for families with sick children.
This dangerous disease, difficult to treat, can be easily detected and prevented through blood tests, deep analysis tests in pre-marital health checks. In addition, pregnant women can also perform tests to check whether the fetus has the disease gene or not.

3. Steps to test genes for Thalassemia

Thalassemia gene is passed from parents to children by recessive inheritance, the child is only born with the disease when both parents are carriers of the disease.
Thus, a person with Thalassemia gene can completely give birth to a healthy child without the disease gene if he marries a person who does not carry the gene. Thalassemia gene detection test procedure is carried out step by step:
Step 1: complete analysis of blood cells with negligible test cost;
Step 2: Based on the blood test results, the doctor will assign a quantitative test to the hemoglobin component
Step 3: Then consider performing a molecular biology test to determine the mutation gene.

In cases where two people carrying the same Thalassemia gene get married, with measures taken, prenatal screening will still help the mother give birth to children without the disease.
The World Thalassemia Federation has confirmed: Thalassemia is completely preventable. Prof. Dr. Nguyen Anh Tri, Director of the Central Institute of Hematology and Blood Transfusion, Chairman of the Vietnam Congenital Hemolysis Association, said: "One of the important ways to "prevent disease", gradually reduce and stop the birth of these diseases. sick children need to approach carriers of the gene, direct them to get married and have children so that there are no cases of both carrying the disease gene.

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