What is thalassemia? Is it scary?

Thalassemia is also known as marine anemia. is a group of hereditary hemolytic anemias. The common feature is that one or more of the globin peptide chains in hemoglobin are synthesized or not synthesized due to defects in the globin gene.

As a result, the composition of hemoglobin is changed, and the clinical symptoms of this group of diseases vary from mild to severe, and most of them manifest as chronic progressive hemolytic anemia.

The disease is more common in Mediterranean coastal countries and Southeast Asian countries, and has been reported in all provinces south of the Yangtze River in China, with a higher incidence in Guangdong, Guangxi, Hainan, Sichuan, Chongqing and other provinces and regions, and is relatively rare in the north.

It is a kind of hereditary anemia, which is difficult to inherit compared to other anemias.

Thalassemia, also known as marine anemia, is a group of inherited disorders. The pathogenesis is the reduction or loss of the globin chain that synthesizes hemoglobin resulting in abnormal hemoglobin structure, which contains abnormal hemoglobin red blood cells with reduced deformability and shortened lifespan, which can be destroyed by the human liver and spleen in advance, resulting in anemia and even abnormal development, which is also known as hemolysis in medicine.

Thalassemia is a hemolytic anemia in which the synthesis of globin in hemoglobin is impaired due to an autosomal genetic defect, resulting in an insufficient or complete deficiency of one or more globins, and red blood cells are easily dissolved and destroyed. where the disorder of globin chain synthesis is called thalassemia, and the disorder of globin chain synthesis is called thalassemia.

What is thalassemia, are you afraid of it?

Thalassemia, also known as marine anemia, is a group of inherited hemolytic anemia disorders caused by a genetic defect that causes the synthesis of one or more globin chains in hemoglobin to be absent or insufficient. Its symptoms are anemia, progressive aggravation of hepatosplenomegaly, jaundice, stunted growth, etc., which seriously endanger the patient's health and is a relatively terrible disease. The scary thing is that thalassemia is a relatively rare congenital anemia disease, which is autosomal incomplete dominant inheritance and cannot be ** at present.

If there is severe anemia in the clinic, blood transfusion can be taken**, patients with mild disease can be asymptomatic for life, patients with more severe disease generally die in utero or die early in the fetal period, and the transplantation of allogeneic gene hematopoietic stem cells is currently the only way to stabilize **. Although thalassemia is scary, if it is prevented, it can still reduce the chance of thalassemia. Thalassemia is caused by a simple genetic abnormality, so there are no specific dietary requirements.

If you want to prevent thalassemia, you should first be screened to see if you have the thalassemia gene in your body; If the abnormality is positive, genetic diagnosis is carried out, and the above is prevention. The second step of prevention, if the husband and wife carry the thalassemia gene at the same time, prenatal diagnosis is required, if the fetal gene type is confirmed to be thalassemia major, the pregnancy will be terminated, and some patients have not terminated the pregnancy due to lack of knowledge of thalassemia, then the fetus with thalassemia major needs to be transfused and excreted iron after birth**. Thalassemia can be classified as thalassemia minor and thalassemia major based on the degree of genetic abnormality.

The life expectancy of a person with thalassemia minor is not much different from that of a normal person. Thalassemia major is a serious form that can lead to early onset and even early death.

The cause of thalassemia patients is mainly caused by genetic factors, and there are very complex defects in the patient's genes, which leads to the lack of hemoglobin in the patient, which can not be cured by simply supplementing iron and blood, so which degree of thalassemia will die?

Let's first talk about patients with thalassemia severe, thalassemia major is actually some young children, because thalassemia major will develop as early as three months after the child is born, and the latest onset of the child will be after one year of age, after the onset of the disease, the child will have a special face of thalassemia, the face is bloodless or because the child has jaundice complications, the face is yellow, and the facial bones are deformed.

In the future, there will be various internal organ complications, the most common is hepatosplenomegaly, protruding belly, when the time of heart failure is five to ten years old, then the child's life will be premature.

Moderate thalassemia is between severe and mild, but moderate is not just no worries, moderate patients only have a later age of onset than heavy patients, and many internal organs of the body will also have complications after the onset of the disease. And the liver and spleen are enlarged, and they often die of heart failure in middle age.

The most likely to raise questions about life are some patients with mild thalassemia, because these patients usually find out that they have this disease when some blood-related aspects are examined, such as some areas with a high incidence of thalassemia, and the patients have no discomfort symptoms before marriage. I was shocked and confused.

Thalassemia is an inherited disorder that stratifies severe cases according to genotype and hemoglobin profile. It is generally divided into stationary, light, intermediate and heavy. It depends on the specific genotype and the hemoglobin concentration.

Onset will show a gradual decrease in red blood cells, leading to worsening anemia. Because of ischemia and hypoxia, it will cause the person's face to appear anemia.

What are the dangers of thalassemia?

The clinical manifestations of thalassemia are similar to general anemia, that is, the ischemia and hypoxia of body organs and tissues caused by anemia, resulting in symptoms of palpitation, shortness of breath and poor digestive function. But for thalassemia, a hereditary disease, it also has its own special manifestations.

People with thalassemia have very strong bone marrow hematopoiesis, but the blood melts away in situ and does not mature properly. Therefore, these children who are born with thalassemia major show some symptoms after three to six months, and in severe cases, they can even cause abnormal bone development. For anemia, it is necessary to pay more attention to diet, and people with anemia can drink Guxue tea to regulate qi and blood, nourish yin and nourish blood and moisten dryness.

Because thalassemia patients need blood transfusions, for thalassemia major patients, blood transfusions are basically required every 3 to 4 weeks, so it will cause a lot of iron to be transfused into the body, causing iron overload.

When there is too much iron in the body, iron will be deposited in the organs, causing ferroptosis in the heart, liver, spleen and other endocrine glands and other organs, which will cause insufficient function of important organs, affect the growth and development of children, affect the function of important organs, and even be life-threatening in severe cases.

Thalassemia classification and symptoms.

Thalassemia major:

Patients with this type of hemoglobin below 6 g dl, severe lack of normal hemoglobin, and if there is no blood supplementation, the following symptoms will appear: paleness, tiredness, loss of appetite, low immunity (susceptibility to infections, etc.), slow growth and hepatosplenomegaly, etc. In the long run, it is easy to lead to underdevelopment, bone deformation and heart failure, thus shortening the life expectancy.

Therefore, regular blood transfusions are required.

Thalassemia intermedia:

This type of patient has hemoglobin of 6 9g dl, generally presents with paleness, slightly enlarged spleen, no other obvious symptoms, normal growth and development, and no regular blood transfusion. However, blood transfusions are required in cases where anemia may worsen, such as infection, drug misuse, pregnancy, etc.**.

Thalassemia minor.

This type of patient is a carrier of the gene for thalassemia and has only minor problems with the function of making hemoglobin. Generally, there are no clinical manifestations, and the physical condition is relatively normal.

Thalassemia type A:

This type of thalassemia has a low incidence in China, is mostly severe, and occurs in the fetal period, dies in the womb at the end of pregnancy, or dies from severe anemia and hypoxia shortly after birth.

Thalassemia type:

The incidence of this type of thalassemia in China is mostly mild anemia and a small proportion are moderate anemia. Severe patients are usually born normally, and symptoms of anemia usually do not develop until three to six months postpartum.

Thalassemia is mildly well controlled, and it does not have much effect. If thalassemia is moderate to severe, it can cause great distress to the patient. There will be general weakness and malnutrition, as well as symptoms of hepatosplenomegaly.

Thalassemia is hereditary because it is a genetic defect.

Mild patients do not need blood transfusions**, moderate patients need red blood cell transfusions, severe patients may die, and thalassemia is a genotypic disease that is inherited.

The biggest harm of thalassemia is that your body's kidneys will be lost, and you have to go to blood transfusions frequently, the body is particularly weak, and such diseases will basically be inherited to the next generation, which is very terrible.

Thalassemia, also known as marine anemia, is a group of inherited hemolytic anemia disorders caused by a genetic defect that causes the synthesis of one or more globin chains in hemoglobin to be absent or insufficient. Its symptoms are anemia, progressive aggravation of hepatosplenomegaly, jaundice, dysplasia, etc., which seriously endanger the patient's health and is a relatively terrible disease.

For young couples who have just married, it is more appropriate to screen for thalassemia at that stage???

Harm of thalassemia to the human body:

1) Severe: anemia, progressive aggravation of hepatosplenomegaly, jaundice, and dysplasia appear within a few days of birth, and its special manifestations are: large head, widening of the eye distance, saddle nose, forehead protrusion, cheek protrusion, its typical manifestation is a buttock-like head, long bones can be fractured.

Skeletal changes are caused by hyperhematopoiesis of the bone marrow, widening of the bone marrow cavity, and thinning of the cortex. A small number of patients develop a thoracic mass between the ribs and spine, and gallstones and leg ulcers may also be seen. Common complications include acute pericarditis, secondary hypersplenism, and secondary hemochromatosis.

2) Intermediate: mild to moderate anemia, most patients can survive to adulthood.

3) Mild: mild anemia or asymptomatic, generally found during the investigation of family history.

People with anemia can drink Guxue tea to regulate qi and blood, nourish yin and nourish blood and moisten dryness.

Thalassemia is referred to as thalassemia, also known as globin dysgenesis anemia or marine anemia, is a group of hereditary hemolytic anemia diseases, which is caused by inherited genetic defects, resulting in the absence or deficiency of one or more globin chains in hemoglobin synthesis or pathological state. The family you said has never had it for generations, and it may be that there is a gene carrier. Thalassemia is a hereditary disease brought about by birth, and there is no best way to do it, that is to say, there is no good way to do it.

Although conventional methods cannot, allogeneic stem cell transplantation or thalassemia through genetic modification is a hot topic of current research. However, if thalassemia is light, it can not be **, and its life expectancy is the same as that of a normal person.

Most patients with thalassemia mild are asymptomatic or have only mild anemia. Moderate thalassemia presents with hepatosplenomegaly and mild jaundice. Thalassemia major, commonly known as hydrops fetalis syndrome, often occurs at 30 to 40 weeks of abortion and intrauterine death, or dies soon after birth; Thalassemia major, most of them are born without obvious symptoms, 3-12 months onset, showing some chronic progressive aggravation of anemia, paleness, hepatosplenomegaly, dysplasia, with the increase of age The symptoms are getting more and more serious, after one year old, the baby's head will gradually become larger, the cheekbones will become higher, the bridge of the nose will collapse and other thalassemia face, it is recommended to improve the conditioning, two bags of solid and tea every day to replenish blood and qi.

Harmful manifestations of thalassemia:

1. Heart failure.

Moderate and severe thalassemia disease brings a lot of pain to patients, among which moderate and severe thalassemia will cause patients to have anemia, weakness, malnutrition, and aggravation of liver and spleen, which will become more and more serious with age; At the same time, the patient's bones will also become larger, resulting in a larger skull, a raised forehead, high cheeks, a collapsed nose bridge, and a wide-distance facial change. At this time, people will also have bronchitis, nephritis and various organs due to iron deposition, which will have certain damage, leading to heart failure and death. 2. Cramps in the hands and feet.

Because thalassemia is more harmful to patients, and iron ions will also be deposited in the parathyroid glands, if the parathyroid glands will regulate the concentration of calcium ions in the blood, some patients in the late stage of iron deposition in the parathyroid glands will cause a drop in blood calcium, causing tingling or cramps in the hands and feet, and iron ions will also be deposited in the pancreas, the pancreas is the digestive gland behind the stomach and iron deposition rarely causes problems here, but if the iron deposition causes damage to the pancreatic islets, then it will affect the secretion of insulin, and diabetes will be formed.

3. Cause diabetes.

If a person with thalassemia has a family history of diabetes, the chance of developing diabetes increases at this time; Therefore, if thalassemia patients have a family history of diabetes, they should have a glucose tolerance test every year after the age of 10, and if the child has no family history of diabetes, they should have a glucose tolerance test every 2 years after the age of 16.

4. Fetal edema.

Thalassemia mutates all 4 alleles.

The harm of thalassemia to the human body is probably the above, if you have any questions, you can pay attention to consultation!