Thalassemia was first discovered in the Mediterranean region, when it was called thalassemia, also known abroad as thalassemia maritima. In China, it is still customarily called thalassemia. Abbreviated name: thalassemia. Thalassemia is commonly found in countries along the Mediterranean Sea. When you see this, many people will say: what does thalassemia have to do with me? Don’t worry, listen to what I have to say. It is also common in the Middle East, India, Southeast Asian countries, and southern China. In China, it is common in Guangxi, Guangdong, Hainan, Jiangxi, Hunan and Sichuan.
According to the latest results of the baseline survey of thalassemia in Guangdong Province in 2012, the incidence of thalassemia in Guangdong: 16.1%. This is a significant increase from the 13.8% result of the survey a few years ago. Don’t think that thalassemia is far away from us, in fact, one out of every 8-9 people in Shaoguan carries the thalassemia gene. In our hospital alone, dozens of fetuses are diagnosed with severe thalassemia every year and are induced to deliver.
There are also a significant number of fetuses that develop edema, are stillborn, or pass away early within minutes of birth and are hastily disposed of without any deeper investigation into the cause. Most regrettably, Shaoguan currently has more than 50 children with severe geodeprivation born to unprepared parents, surviving with difficulty and pain, insisting on monthly blood transfusions and iron removal agents, a heavy burden that has crushed several generations, and the lives that were barely maintained, almost all died in childhood. The pain of this can be imagined.
Read this horror now! Land poverty is actually a lot closer to us than we think. At this point, someone will say what is geodeprivation? I’ve never heard of it! Many parents of thalassemia parents, “never even heard of it” from before their own children got sick (this is what every parent of a child with thalassemia knew about thalassemia before their child was diagnosed). Recently, we learned from the Guangzhou Children’s Fellowship of Thalassemia Major that the proportion of children born with thalassemia major is increasing year by year.
Thalassemia is not as scary as leukemia, but it is no less dangerous than leukemia. Children with thalassemia major can only be kept alive by frequent blood transfusions and almost always die in childhood.
Here we will talk about what is thalassemia. Thalassemia is a severe hereditary anemia, which is caused by a congenital genetic defect that prevents the body from synthesizing hemoglobin normally, making the red blood cells easily dissolve and break in the spleen and bone marrow, forming a chronic hereditary anemia. Hereditary anemia, then, is passed down from generation to generation from previous generations. When it comes to this, some patients will ask: We don’t have anemic people from our ancestors! It is impossible. This is when I tend to reply, “Just because you were not found, doesn’t mean you weren’t, and your grandparents were lucky.”
The common types of thalassemia are : alpha thalassemia; beta thalassemia. Shaoguan is a high prevalence area of alpha marine anemia. beta marine anemia is also more common. Due to the different genetic defects, the severity of the disease varies greatly, ranging from fetal and infant mortality due to severe hemolytic anemia to a lifetime without any clinical symptoms despite hemoglobin abnormalities. The genotypes and phenotypes of thalassemia are diverse and vary greatly. The genotype can be divided into pure and heterozygous according to the severity of symptoms and signs.
1, heavy: a few days after birth, anemia, hepatosplenomegaly progressive aggravation, jaundice, and dysplasia, and its special manifestations are: large head, widened eye spacing, saddle nose, prominent forehead, prominent cheeks, its typical performance is hip-shaped head, long bones can be fractured. The skeletal changes are caused by hyperhematopoiesis of bone marrow, widening of bone marrow and thinning of cortex. In a few patients, thoracic masses occur between the ribs and spine, and gallstone disease and lower limb ulcers may also be seen. Common complications include acute pericarditis, secondary hypersplenism, and secondary hemochromatosis.
2. Intermediate type: mild to moderate anemia, most patients can survive into adulthood.
3. Mild: mild anemia or asymptomatic, usually found during family history investigation.
Since thalassemia is a genetic disease, it is inherited from the parents. We have no way to choose our parents, but we have the obligation not to be the parents of a child with severe thalassemia. We have an obligation to get ourselves tested for marriage, to find out if we are carriers of leukodystrophy and to find out if the other person is a carrier of leukodystrophy. If we are unlucky enough to both carry the same type of leukodystrophy gene, then we should carefully consider whether to stay together.
Some people may say that we have a good relationship and decided to get married. Then the doctor has no right to object, but will definitely tell you that both couples carry the same type of thalassemia gene, i.e. there is about a one in four chance of having a thalassemia major fetus, and of course, with luck, it could be that three in four chance of having a child that will survive normally. Prenatal diagnosis is mandatory after pregnancy and is the only effective means of avoiding the birth of a child with thalassemia major. We have seen a couple with 10 pregnancies, all with a fetus with thalassemia major.
We do not have the choice to choose our own parents, but we have the obligation to give ourselves a maternity check-up. We miss the wedding check-up, we must do the maternity check-up, the obstetrician will screen the pregnant woman for thalassemia, and give the necessary couple a prenatal diagnosis, it is not too late to do measures before the birth of a child with thalassemia major. At this point, there will be couples who will say: “If you have a child with thalassemia, you have a child with thalassemia, let’s cure it! Then I would suggest you to join the Shaoguan Thalassemia Association, after that I guess no one will say that again.
Many of the children in Shaoguan who are severely impoverished die early before they reach adulthood because they are not treated effectively. Their childhood fades away in the pain of “waiting for death”. The cost of treating a child with severe poverty to live until he or she is 30 or 40 years old is about three or four million yuan. Many families sell their houses and land, and cannot repay their debts for the rest of their lives.
Seeing this, I believe that you have understood: thalassemia is not preventable, but we can control the birth of children with severe thalassemia.
Before we talk about prevention, the chance of giving birth to a person with severe anaemia is possible if the couple is combined with a person who is suffering from anaemia. If neither of the couple is a carrier of the gene, their next generation will not have the gene. If only one of the couple is a carrier of the gene, there is a 50% chance that their child will become a carrier of the gene for each pregnancy. If both couples are carriers of the gene, there is a 25% chance that their child will be “normal”, a 50% chance that they will be carriers of the gene, and a 25% chance that they will develop severe leukodystrophy with each pregnancy.
When it comes to prevention, it is actually quite simple. One is to know if you have mild or moderate thalassemia (because it is impossible to grow up normally, so it is mild or moderate with mild symptoms), you only need to take a small amount of blood sample for testing, the process is simple. Secondly, if you and your spouse have the same type of anemia, the fetus must undergo a prenatal test to confirm whether the fetus is a person with thalassemia major.
The most effective way to prevent thalassemia is marriage testing. Couples should go to a general hospital, maternal and child health center or reproductive health clinic when they get married for genetic counseling and related tests, and if the test results show that the couple carries the thalassemia gene, they should take appropriate preventive measures.
In addition to marriage test, prenatal diagnosis is also an important tool to prevent the occurrence of thalassemia. Prenatal diagnosis should be done in the early or middle stages of pregnancy. Prenatal diagnosis is not too complicated and less painful. A little bit of chorionic villus or amniotic fluid is extracted with a professional needle and DNA genetic analysis is used for prenatal diagnosis. If the fetus shows thalassemia major, the pregnancy will be terminated by induction of labor.
It is not easy to say that it is simple. “Prevention and intervention measures are not implemented in place, thalassemia is ignored by most people, and the rate of marriage screening in Guangdong is less than 30%.” According to a relevant person in charge, in 2006, the province’s rural marriage inspection rate was only 0.45%, ranking 29th in the country. Even in 2010, the province’s marriage inspection rate is still less than 30%. Therefore, the ground poverty is not effectively controlled because the government’s prevention and intervention measures are not in place. Although the city of Shaoguan has implemented free marriage screening, and some of the counties and cities with relatively good conditions of primary health care institutions also provide free pre-conception eugenics, but the city’s marriage screening rate is far from meeting the requirements.
Now, after years of expectation and effort, we have welcomed a turnaround. The government of Guangdong Province and the leadership of the Department of Health have fully recognized the importance of prevention and control of thalassemia, and special funding is allocated for the thalassemia prevention and control project in Guangdong Province. Our city is subsidized for pregnant women in our city to receive prenatal diagnosis service for thalassemia in accordance with the requirements in the “Guangdong Province Thalassemia Prevention and Control Project Management Measures”. Subsidy recipients.
The subsidy recipients must meet the following conditions.
(1) Both or one of the spouses is a Shaoguan household member.
(2) The couple has been diagnosed as homozygous for α or β genes and their fetus has been diagnosed with prenatal diagnosis of the disease.
(3) Those who have undergone prenatal diagnosis of leukodystrophy in our prenatal diagnosis center since October 1, 2012. At present, the Genetic and Prenatal Diagnostic Center of Shaoguan Maternal and Child Health Hospital is the only prenatal diagnostic center in our city that has been officially accredited by the state.
1. Subsidy items and standards.
(1) Subsidy items: including the total cost of genetic diagnosis and ultrasound localized puncture surgery for both pregnant couples and one fetus. Other diagnostic items required beyond this scope are not included in the subsidy.
(2) Subsidy standard: 1,773 yuan per pregnancy.
2. Materials to be provided by the subsidy recipients.
(1) Original and copy of ID card, hukou book and marriage certificate of both spouses.
(2) The original and copy of the genetic test report of the couple and their fetus issued by the prenatal diagnosis institution (Shaoguan Maternal and Child Health Hospital), the prenatal diagnosis medical record, the fee bill, and the list of fees.
(3) If the pregnant woman does not receive the subsidy in person, she must submit the original and copy of the ID card of the representative, as well as the written authorization letter of the principal.
3.Procedure of receiving the subsidy fee.
Within 3 months after the pregnant woman receives the prenatal diagnosis of the prevalence of poverty → go to the municipal maternal and child health center (Shaoguan City Health Center) where the pregnant woman’s household registration is located (or where the pregnant woman’s husband’s household registration is located if the pregnant woman is not the household registration of the city) and submit the above documents → Shaoguan City Maternal and Child Health Center verifies the identity and information, keeps the copy, and indicates “the subsidy for the prevalence of poverty has been issued” on the original bill of charge “, fill in the “Guangdong Province Prenatal Diagnosis of Fetal Earth Poverty Prevention and Control Project Fetal Earth Poverty Subsidy Information Collection Form” → sign to confirm and receive the subsidy fee.
Subsidy issuance: Shaoguan Maternal and Child Health Hospital is responsible for the issuance and management of the subsidy for the service recipients of the prevention and control program of fetal pneumoconiosis in its jurisdiction. Those who have their prenatal diagnosis of poverty in other units in our city (non-nationally accredited medical institutions) are not eligible for subsidies according to the regulations.