Is thalassemia severe?

Written by Zhang Xiao Le
Hematology
Updated on June 27, 2025
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Whether thalassemia is severe depends on the specific type and severity.

Thalassemia, also known as Mediterranean anemia, Cooley's anemia, or hemoglobin synthesis disorder anemia, is a hemolytic anemia caused by a genetic mutation. Thalassemia is a hereditary disease, and its severity depends on the specific type and severity level.

Thalassemia can be divided into alpha-thalassemia and beta-thalassemia. Alpha-thalassemia includes silent carrier, trait, and major forms. Beta-thalassemia includes minor, intermediate, and major forms. Individuals with mild alpha-thalassemia generally do not exhibit significant clinical symptoms or have noticeable impacts. However, major thalassemia often leads to significant developmental abnormalities and can result in early death.

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Written by He Li Fang
Hematology
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What is thalassemia?

Thalassemia, commonly referred to as thalassemia, is a type of hereditary hemolytic anemia caused by mutations or deletions in the globin gene, leading to insufficient synthesis of globin peptide chains. This condition is termed thalassemia when characterized by a deficiency in globin chains. Clinically, based on the severity of the anemia, it is categorized into mild, intermediate, and severe types. The disease is widely distributed in many regions of the world, predominantly prevalent in the Mediterranean area, the Middle East, Africa, Southeast Asia, and southern China, including Guangxi, Guangdong, Sichuan, Hong Kong, northern Taiwan, as well as Yunnan, Guizhou, Hainan, Fujian, Hunan, and Hubei, with less prevalence in the north of China.

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Hematology
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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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Hematology
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How to test for thalassemia?

Thalassemia is a genetic disease, a hereditary condition, caused by abnormal production of globin in hemoglobin, leading to hemolytic anemia. Patients with thalassemia should first undergo a routine blood test. If the routine blood test indicates anemia or even if there is no anemia but the red blood cells are very small, it suggests a high possibility of thalassemia. At this point, further screening for thalassemia genes should be conducted to confirm the diagnosis. Once thalassemia is definitively diagnosed, it can be classified as mild, moderate, or severe based on the genotype.

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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.

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Is the level of ferritin high or low in thalassemia?

In thalassemia, ferritin levels are generally normal. Clinically, both thalassemia and iron deficiency anemia present as microcytic hypochromic anemia. The simplest differentiation between the two is by checking ferritin levels. In iron deficiency anemia, ferritin levels are usually significantly decreased, whereas in thalassemia, ferritin levels tend to be normal. If microcytic hypochromic anemia is detected with normal ferritin levels, further tests such as hemoglobin electrophoresis and screening for thalassemia genes are needed to confirm if it is thalassemia, the specific type, and the severity, to guide subsequent treatment methods.