Understanding Thalassemia: Mr. C’s Story and Genetic Risks Explained

2024-05-08 04:31:00

Mr. C, a member of the Farmers, has suffered from thalassemia major since he was a child. After getting married in 2019, he once said he wouldn’t force himself to have a baby.

[Thalassémie/Anémie/Maladie de longue durée/Maladie héréditaire]Today (May 8) is World Thalassemia Day. Thalassemia is a hereditary disease. Patients and gene carriers have a certain chance of passing it on to the next generation. Mr. C, a member of the Farmers, has suffered from thalassemia major since he was a child and has required regular blood transfusions throughout his life. So he married Huang Tianyi, the “Flower of Hong Kong and Taiwan”, in 2019. Frankly stated that he would not force the creation of a human being, and currently enjoys the world of two.

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Mr. C’s real name was Zheng Shijun. Because his parents suffered from thalassemia and never checked to see if he had the genetic gene, he had severe thalassemia since birth and needed blood transfusions in the hospital every month throughout of his life.At the age of 14, he received blood transfusions whileto accessrevealing the helplessness of being sick:

I usually have to match the blood. If I don’t deserve the blood, you don’t have a blood transfusion. I’m going to get the blood after school. If I’m going to have a wave after school, I need to match the blood. some blood. It’s boring, but it doesn’t matter how difficult it is. If I don’t get the blood transfusion, I will die, Geng Department is back for a blood transfusion!

In December 2019, he married Huang Tianyi, whom he had dated for four years. Both men had undergone examinations before the marriage. Although it was concluded that the next generation would not be affected by thalassemia, a genetic disease, they also reached a consensus. that they are not obliged to have children. He said:

We are not very eager to have a baby, but we think it is quite interesting for the two of us to get along, and we also like the current model of the two of us.

What exactly is thalassemia?health departmentFund for thalassemia childrenAndChinese Community Health Resource CenterInformation, Thalassemia is an inherited blood disease characterized by insufficient production of a substance called hemoglobin in red blood cells. Under normal circumstances, blood supplies oxygen and nutrients to various parts of the body via hemoglobin. If the oxygen supply is insufficient, the functioning of organs and tissues in various parts of the body will be affected. Since people with thalassemia have less hemoglobin than normal people, they usually have mild to severe anemia.

At present, about 8% of Hong Kong’s population carries the thalassemia gene, that is, about 8 out of 100 people will carry the thalassemia gene, and the vast majority of ‘of them will only inherit one abnormal gene. Gene carriers usually present with thalassemia minor and have no symptoms. A small number of people have mild anemia and do not require special treatment.

Symptoms of thalassemia

Thalassemia can be divided into two main types: type A (α) and type B (β). The genetic defects and conditions of the two types are also different. The former mainly affects the α-globin chain of hemoglobin and in severe cases can lead to death of the fetus or infant after birth, while the latter mainly affects the β-globin chain of hemoglobin if the patient does not undergo umbilical cord blood collection. In case of cell or bone marrow transplantation, his life expectancy will generally be shorter and will require lifelong blood transfusions and iron removal treatment.

Generally, people with thalassemia minor will not have any symptoms, while people with thalassemia major may have the following symptoms:

  • Weakness and dizziness
  • Tired and weak
  • Pale complexion or jaundice
  • brown urine
  • quick jump
  • The face and skull are special and;
  • Excessive hepatosplenomegaly, etc.

genetic risk

If both couples carry the thalassemia gene, the risk of their child having thalassemia is as follows:

  • There is a 25% chance of suffering from thalassemia.
  • There is a 25% chance of not having thalassemia.
  • There is a 50% chance of getting a thalassemia gene from one parent and a normal gene from the other parent, and then becoming a carrier of the thalassemia gene.

So how can people test if they have thalassemia or carry the gene? According to the information, ordinary blood tests can detect the amount of hemoglobin or the size of red blood cells, and can also detect the iron content to identify whether it is iron deficiency anemia. Pregnancy tests such as chorionic villus sampling (CVS) will take a small piece of tissue from the placenta as a sample for testing, or an amniocentesis to test the amniotic fluid, which can also detect thalassemia.

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