What should I do about thalassemia?

Written by Zhang Xiao Le
Hematology
Updated on May 14, 2025
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Thalassemia is a hereditary hemolytic anemia. Currently, there is no specific cure for thalassemia, and treatment mainly involves symptomatic management based on the type and severity of the disease. This includes red blood cell transfusions, prevention of secondary hemosiderosis, and splenectomy, along with targeted prevention and treatment of factors that induce hemolysis, such as infections. Splenectomy is appropriate for patients whose transfusion needs are increasing, accompanied by splenic hyperfunction and significant compression symptoms. For patients with a suitable HLA-matched donor, allogeneic hematopoietic stem cell transplantation can be performed, which is currently the only effective treatment capable of curing thalassemia. Although mild thalassemia cannot be cured, prenatal genetic diagnosis is crucial for eugenics, effectively preventing the birth of fetuses with thalassemia and playing an important role in genetic health care.

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Written by He Li Fang
Hematology
1min 25sec home-news-image

Can a fetus with thalassemia be kept?

Thalassemia, commonly referred to as "Mediterranean anemia," is a hereditary hemolytic anemia caused by mutations or deletions in globin genes, leading to insufficient synthesis of globin peptide chains. Cases with a deficiency in the globin chain are called thalassemia. Regarding whether a thalassemia fetus should be carried to term, one must first consider the maternal family history, including any history of stillbirths, occurrences of hydrops fetalis (swelling in infants), or cases of severe thalassemia in children, as well as instances where both parents are carriers, marking a high-risk pregnancy. In such cases, strict prenatal diagnosis is required. Prenatal diagnosis includes taking samples of fetal chorion, amniotic fluid, and umbilical cord blood for genetic analysis. If severe thalassemia or Hemoglobin Barts Hydrops Fetalis Syndrome is detected in the fetus, the pregnancy should be terminated immediately. Therefore, it is recommended to terminate pregnancies where the fetus is found to have severe thalassemia or Hemoglobin Barts Hydrops Fetalis Syndrome.

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Written by He Li Fang
Hematology
1min 11sec home-news-image

Can thalassemia be inherited by children?

Thalassemia, originally known as Mediterranean anemia or thalassemia, was named due to the early discovered cases predominantly among the Mediterranean coastal populations. However, the disease is widespread in many regions around the world, with Southeast Asia being one of the high-prevalence areas. In China, it is more commonly seen in Guangdong, Guangxi, and Sichuan, and there are also scattered cases in the provinces and regions south of the Yangtze River, while it is less common in the north. It is caused by a hereditary defect in the globin gene, leading to the absence or insufficiency of one or more globin chains in hemoglobin, resulting in anemia. This pathological state is called thalassemia. Due to the complex diversity of genetic defects, the types and quantities of the missing globin chains, as well as clinical symptoms, can vary. Thus, thalassemia encompasses a group of diseases. Being a genetic disorder, Mediterranean anemia can be inherited by children.

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Written by He Li Fang
Hematology
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What tests are for thalassemia?

Thalassemia firstly requires genetic diagnosis through a series of techniques such as DNA restriction endonuclease map PCR, which identify the genotype of thalassemia. Secondly, hemoglobin electrophoresis needs to be completed. Through complete hemoglobin electrophoresis, it can discriminate between silent gene carriers and those with thalassemia, hemoglobin H disease, and hemoglobin Bart's hydrops fetalis syndrome. Additionally, a significant increase in hemoglobin A2 in overt thalassemia also has certain specificity. Thirdly, a complete bone marrow picture is necessary, which will match the bone marrow picture of hemolytic anemia. There is pronounced erythroid hyperplasia, positive iron staining, and an increase in sideroblastic erythroblasts. Fourthly, a complete blood count is needed. Different types of blood counts show different levels of hemoglobin reduction. In mild thalassemia and thalassemia traits, hemoglobin is mostly normal or mildly decreased. In severe thalassemia, hemoglobin is generally below 50 grams per liter, indicating a severe anemic state. Blood smears might show anisocytosis, poikilocytosis, and target cells. It is common to see nucleated erythrocytes and reticulocytes significantly increased, which matches the signs of hemolytic anemia. Fifth, iron metabolism testing needs to be completed. By improving iron metabolism testing, it serves as a discriminant for silent gene carriers, as well as those with thalassemia traits and patients with mild thalassemia based on serum iron, iron saturation, and serum ferritin concentration. Sixth, X-ray examination needs to be completed. Severe thalassemia features typical hair-on-end changes, visible as vertical striations between the trabeculae of the cortical bone in the skull X-rays, resembling upright hair and rays of sunlight.

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Written by Li Fang Fang
Hematology
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What are the harms of thalassemia?

The harm caused by thalassemia mainly comes from two aspects: one is the damage caused by anemia itself; the other aspect is that thalassemia is a hereditary disease, which can pass the pathogenic genes to the next generation. The damage from anemia can affect the nervous system, manifesting as dizziness, headache, brain fog, and tinnitus; in severe cases, it can lead to acute cerebral infarction. The cardiovascular system can be affected by reduced exercise tolerance, chest tightness and shortness of breath after activity, palpitations, and inability to lie flat at night; in severe cases, it can even cause acute myocardial infarction. The inheritance of thalassemia to the next generation depends on how many pathogenic genes are passed from both parents. The more pathogenic genes inherited, the more severe the thalassemia. Severe cases of thalassemia often result in death shortly after birth.

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Written by Zhang Xiao Le
Hematology
1min 5sec home-news-image

What should I do about thalassemia?

Thalassemia is a hereditary hemolytic anemia. Currently, there is no specific cure for thalassemia, and treatment mainly involves symptomatic management based on the type and severity of the disease. This includes red blood cell transfusions, prevention of secondary hemosiderosis, and splenectomy, along with targeted prevention and treatment of factors that induce hemolysis, such as infections. Splenectomy is appropriate for patients whose transfusion needs are increasing, accompanied by splenic hyperfunction and significant compression symptoms. For patients with a suitable HLA-matched donor, allogeneic hematopoietic stem cell transplantation can be performed, which is currently the only effective treatment capable of curing thalassemia. Although mild thalassemia cannot be cured, prenatal genetic diagnosis is crucial for eugenics, effectively preventing the birth of fetuses with thalassemia and playing an important role in genetic health care.