Pregnancy is a matter that every woman attaches great importance to, especially most modern young people are only children, but many modern pregnant women will have thalassemia pregnancy. Do you know how to check thalassemia? What are the hazards of thalassemia pregnancy? Today, I will give you a detailed introduction on how to treat thalassemia.

Recently, a news that my father taught himself "Compendium of Materia Medica" to treat his daughter's smoking with β thalassemia touched many people's hearts. This incident has aroused the concern of the whole society about this disease. It is understood that thalassemia is one of the genetic diseases with the highest incidence and the most serious harm in the global population, with the highest incidence in Hainan, Guangdong and Guangxi. Among them, the birth of a child with severe thalassemia will bring great mental pain and economic burden to the family. Therefore, it is extremely important to take effective preventive measures and do a good job in popular science propaganda.

Thalassemia is a genetic disease.

According to incomplete statistics, 1 person in south China suffers from thalassemia (hereinafter referred to as thalassemia). Thalassemia is a group of hereditary hemolytic anemia diseases, which is an anemia or pathological state caused by the lack or insufficient synthesis of one or more globin chains in hemoglobin due to genetic defects.

Thalassemia can be divided into four types according to the location of gene abnormality, namely α-type, β-type, δ-type and δ-type, among which α-type and β-type are more common. According to the severity of anemia, it is divided into mild, moderate and severe. Mild patients generally have no symptoms and do not need treatment, thus giving people the illusion of "health without disease". But both husband and wife are mild patients, and the children may be severe patients.

Iron should be removed regularly after blood transfusion.

In the treatment of thalassemia, except for a few patients who can be cured by hematopoietic stem cell transplantation, most patients must rely on blood transfusion for life to improve anemia. According to clinical norms, patients with thalassemia gravis should receive blood transfusion every 30~40 days. When doing routine blood examination, red blood cells need to be transfused when the hemoglobin value is lower than 90 g/L, otherwise it will affect the growth and development of patients.

After hemolysis and long-term blood transfusion, the iron content in patients' blood will be high. When iron is deposited in the heart, liver and other organs, it will lead to myocarditis, liver fibrosis and other life-threatening situations. When the cumulative blood transfusion 10~20 times, patients should check the serum ferritin level. If the result is greater than 1000 μ g/L, iron removal must be started.

The average death age of patients with severe thalassemia through blood transfusion without iron removal treatment is 10 years old. Blood transfusion and irregular iron removal treatment generally do not exceed 20 years old and die; By taking standardized iron removal treatment at the same time of blood transfusion, patients will have the opportunity to live to 50 years old.

The success rate of "second child" saving "boss" is low.

The treatment cost of thalassemia patients from birth to adulthood is very high. In contrast, the cost of hematopoietic stem cell transplantation will be much lower, and if ideal, patients with severe thalassemia can also be cured. However, even if the patient's family members make up the cost, they will face another problem: finding a suitable hematopoietic stem cell donor.

To this end, for some parents who can't wait for their children, all their hopes are pinned on self-help, and then they want a baby and use the second child to save the boss. But what are the chances of having a poor baby and a healthy baby?

If both husband and wife are carriers of β thalassemia gene, there is a 1/4 chance to give birth to severe thalassemia children, a 1/2 chance to give birth to mild thalassemia children, and a 1/4 chance to give birth to normal children without thalassemia gene. Because mild thalassemia is generally asymptomatic and does not affect normal life, it can also be used as a donor of hematopoietic stem cells. Between siblings, the probability of hematopoietic stem cell matching is only 1/4. In other words, in theory, the success rate of regenerating a fetus to transplant hematopoietic stem cells to patients is only 3/ 16.

However, this is only a theoretical probability. In fact, many people have a second or third child, but they still can't escape the bad luck of severe thalassemia.

To prevent thalassemia, it is necessary to do a good job in marriage examination and pregnancy examination.

Thalassemia is caused by gene defect or mutation, and it is only hereditary and not contagious. Although thalassemia has a high gene carrying rate, it can be prevented. Young couples can avoid giving birth to children with moderate or severe thalassemia as long as they check before marriage or pregnancy to find out whether they carry thalassemia gene.

In addition, whether the fetus has thalassemia gene can be detected by chorionic examination at 12 weeks of pregnancy, amniocentesis at 16~20 weeks, or umbilical cord puncture after 24 weeks. Once the fetus with moderate or severe thalassemia is detected, it is recommended to induce labor. In addition, there is a more direct way, which is to choose the third-generation IVF technology to help mothers conceive healthy babies and avoid the need for induced labor through in vitro embryo genetic screening.

It can be seen that both husband and wife can get the health and safety of the next generation as long as they know more about thalassemia and actively do relevant examinations.

At present, when pregnant women have their first prenatal examination, doctors will ask for hemoglobin, hematocrit ratio and mean red cell volume (MCV) to screen pregnant women for thalassemia. If the average volume of red blood cells is less than 80, both husband and wife must check at the same time. If the unfortunate couple have the same thalassemia gene at the same time, the pregnant woman must undergo villus sampling, amniocentesis or fetal cord blood sampling to analyze the fetal gene.

Prenatal examination and systematic hematological screening of pregnant women are the primary measures to monitor the pregnancy of couples with thalassemia of the same type and put an end to severe thalassemia.

What is the genetic probability of thalassemia?

People with mild thalassemia are married to normal people, and their offspring have a 50% chance of becoming mild thalassemia carriers. Static thalassemia and mild thalassemia have a 1/4 chance of giving birth to thalassemia children.

If the husband and wife are homotypic thalassemia gene carriers, then every pregnancy, there is a 1/4 chance that the fetus is normal, a 1/2 chance that it is a gene carrier, and a 1/4 chance that it is a severe thalassemia patient. However, if both husband and wife carry different thalassemia genes, or only one of them carries thalassemia genes, then the child born will not get thalassemia.

After prenatal screening, it is found that pregnant women are thalassemia gene carriers, and their spouses also need to come for examination. If both of them are found to be carriers of the same type of thalassemia gene, prenatal genetic diagnosis should be made for the fetus in the pregnant woman's abdomen. If the genetic diagnosis finds that the fetus has moderate or severe thalassemia, the doctor will advise the pregnant woman to terminate the pregnancy. If it is normal or mild thalassemia, the pregnancy can continue.

Examination of thalassemia in pregnant women

Generally speaking, if both husband and wife are thalassemia gene carriers of the same type, their children have a 25% chance of being normal, 50% chance of being thalassemia gene carriers, and 25% chance of being severe thalassemia. In order to effectively prevent this disease, it is necessary to draw blood for peptide chain detection and gene analysis.

The mental and economic burden brought by severely poor children to their families is unbearable. Severe α thalassemia usually leads to stillbirth or premature death after birth. Severe beta thalassemia has a greater impact. Infants suffering from this disease usually get sick within three months to six months after birth, and they need long-term blood transfusion and iron-removing drugs, which require high treatment costs every month. Children often die because of the heavy iron load caused by long-term blood transfusion, which brings more long-term mental and economic burdens.

Thalassemia is currently incurable. In order to prevent this disease, pregnant women and their spouses should have premarital examination and prenatal genetic diagnosis to avoid giving birth to the next generation of thalassemia children.

Conclusion: Pregnancy is a very important thing for every family, so everyone should know more about pregnancy health care knowledge, which is very helpful for fetal development! I hope that the common sense of thalassemia in pregnancy introduced above can help pregnant mothers protect their health, so we must remember it firmly!