Can thalassemia be inherited by children?

Written by He Li Fang
Hematology
Updated on September 03, 2024
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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 Li Fang Fang
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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Written by He Li Fang
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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Written by Zhang Xiao Le
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Mediterranean anemia has symptoms such as fatigue, paleness, delayed growth, and facial bone deformities.

Thalassemia is a hereditary hemolytic anemia, and the symptoms of patients with thalassemia are related to their specific types. Thalassemia can be divided into mild, intermediate, and severe types. Mild thalassemia clinically may have no symptoms or only mild anemia, sometimes accompanied by mild splenomegaly; Intermediate thalassemia can present with moderate anemia, noticeable fatigue, and splenomegaly, with a few cases experiencing mild skeletal changes and delayed sexual development; Severe thalassemia in children manifests within the first half-year after birth with pallor, progressively worsening anemia, jaundice, hepatosplenomegaly, delayed growth and development, and distinctive facial features such as frontal bossing, a depressed nasal bridge, and increased distance between the eyes.

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Written by Zhang Xiao Le
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What should I eat if I occasionally feel dizzy due to thalassemia?

Patients with thalassemia who experience dizziness typically indicate worsening anemia, and can take folic acid tablets orally. Folic acid is an important raw material for the production of red blood cells, and supplementing with folic acid aids in the recovery from anemia. Thalassemia is a hereditary hemolytic anemia, and there is currently no specific drug for its treatment; it is primarily managed symptomatically. If the anemia is severe, red blood cell transfusions may also be used to correct the anemia. Additionally, severe thalasemia may consider allogeneic hematopoietic stem cell transplantation. Apart from anemia, further investigations should be conducted to rule out cervical spondylosis, cerebrovascular diseases, and otolithiasis when dealing with dizziness in thalassemia patients.

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Written by Zhang Xiao Le
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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.