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Why is it necessary to test for Thalassemia gene?

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PT Health Life – Thalassemia is a congenital hemolytic disease, inherited in an autosomal recessive manner from parents to children through generations. Therefore, testing for the thalassemia gene is very important.

The main manifestation of Thalassemia is anemia with dangerous complications, affecting ethnic groups. 

Performing premarital tests is extremely necessary to accurately screen for the Thalassemia gene, helping to determine whether couples carry the gene that causes Thalassemia or not. From there, assess the risk of Thalassemia in future children.

Thalassemia is a congenital hemolytic disease, inherited in an autosomal recessive manner from parents to children through generations.

1. Symptoms of Thalassemia

There are two main types of the disease: alpha thalassemia and beta thalassemia. In addition, there are other combinations such as thalassemia and hemoglobinopathies.

Mild level (also known as carrier)

People who carry the disease gene usually do not have any special clinical symptoms. Only during periods when the body has an increased need for blood, such as during pregnancy, heavy menstruation, etc., will symptoms of fatigue and blue skin appear. If you do a test, you will see the amount of hemoglobin. reduce.

Average level

Symptoms of anemia appear later than the serious level, about 4-6 years old before the child needs a blood transfusion. Moderate or mild anemia (hemoglobin concentration from 6g/dl to 10g/dl). However, if not treated fully and promptly, the patient will also suffer complications such as enlarged spleen, enlarged liver, gallstones, and dark skin.

By middle age, there will be signs of diabetes, heart failure, and cirrhosis. If the patient receives blood transfusions and adequate iron chelation, they can develop normally and without complications.

Severity level

Symptoms of severe anemia, which can occur right after birth, often appear most clearly when the child is 4-6 months old and become increasingly worse.

Common symptoms include: pale skin; yellow skin and sclera of the eyes; often slow in physical development; There may be fever, diarrhea or other digestive disorders. With adequate blood transfusion, children can still develop normally until about 10 years old.

After 10 years old, children show signs of complications due to increased red blood cell proliferation and excessive iron accumulation in the body such as:

– Bone deformities: large skull, forehead hump, parietal hump, high cheekbones, flat nose, bucked upper front teeth, osteoporosis, making children susceptible to bone fractures;

– Dull skin, yellow sclera;

– Gallstones;

– Late puberty: girls have not had menstruation until 15 years old…;

– Slow physical development.

Beyond the age of 20, patients often have additional complications of heart failure, arrhythmia, diabetes, cirrhosis…

2. Why is it necessary to test for Thalassemia?

Thalassemia is an autosomal recessive genetic disease. Therefore, the rate of men and women affected is the same. When both husband and wife carry the gene for thalassemia , each birth has a 25% chance of having a child with the disease, a 50% chance of the child carrying a disease gene, and a 25% chance of having a normal child.

According to estimates, there are about 8,000 children born with the disease each year, of which 2,000 are seriously ill. Children born with Thalassemia will face serious health risks such as iron overload, enlarged spleen, infections, bone deformities, growth retardation, and cardiovascular diseases such as congestive heart failure. blood, arrhythmia.

The main treatment methods of the disease today are blood transfusions and iron chelation. To maintain life, children must receive lifelong treatment. The cost of treatment is very expensive, in addition to parents having to temporarily stop work to take care of their children in the hospital, this is truly a huge economic and mental burden for the patient’s family.

Most Thalassemia patients have facial bone deformities due to hyperplasia of the maxilla, gray skin pigmentation at the base of the nails, elbows, knees, and ankles. The disease can affect organs in the body:

– Enlarged spleen

– Thrombocytopenia

– Anemia

– Pathological fractures, premature ossification of the lower end of the femur

– Pituitary gland: Affects the development of reproductive organs, adrenal glands, and thyroid gland

– Parathyroid gland: Reduced blood calcium

– Liver: Enlarged liver

– Pancreas: Having diabetes

– Genital organs: Affects sexual development and function.

3. Proactive genetic testing is an effective preventive measure

Patients with Thalassemia are treated very expensively and must have lifelong blood transfusions, depending on blood donations from others to maintain life. It’s dangerous, but we can completely avoid it thanks to:

– Premarital counseling: Couples about to get married should be examined and tested for Thalassemia before getting married.

– All relatives of people with Thalassemia need to be screened.

– If both people carry the same Thalassemia gene and get married, they should get counseling before planning to get pregnant.

– If a couple carrying the same gene for Thalassemia becomes pregnant, they should be diagnosed before birth at 12 – 18 weeks of pregnancy at specialized medical facilities.

– You should be consulted by doctors specializing in hematology, pediatrics and genetics about Thalassemia.

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