What is thalassemia?

Written by Li Fang Fang

Hematology

Updated on September 04, 2024

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Thalassemia, also known as hemoglobin synthesis disorder anemia, refers to a group of hemolytic diseases caused by abnormal hemoglobin genes resulting in abnormal hemoglobin protein or quantity. Thalassemia can be divided into α-thalassemia and β-thalassemia, depending on the type of hemoglobin affected. Thalassemia can vary in severity; individuals with mild thalassemia can live for a long time and may not require regular red blood cell transfusion support in daily life, whereas those with severe thalassemia may die shortly after birth.

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Written by He Li Fang

Hematology

1min

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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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Written by Zhang Xiao Le

Hematology

1min 4sec

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What to do and what to eat for dizziness caused by thalassemia?

Patients with thalassemia who experience dizziness first need to analyze the cause of the dizziness. The vast majority of causes of dizziness are not related to diet, nor can they be corrected by eating certain foods. For patients with thalassemia experiencing dizziness, it is first necessary to consider whether the cause is worsening anemia. A drop in hemoglobin can lead to ischemia and hypoxia in the body, which can manifest as symptoms of dizziness in the nervous system. If it is confirmed that the dizziness is caused by worsening anemia, then blood transfusion treatment is needed, usually requiring the transfusion of washed red cells. Once the anemia is corrected, the symptoms of dizziness can disappear. At the same time, folic acid supplements can be added to provide raw materials for hematopoiesis. Other possible causes of dizziness include diseases such as cranial, cervical spine, and otolithiasis, all of which require further differential diagnosis. (The use of drugs should be carried out under the guidance of a physician)

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Written by He Li Fang

Hematology

1min 4sec

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Is Mediterranean anemia leukemia?

Thalassemia, formerly known as Mediterranean anemia or oceanic anemia, is a hereditary hemolytic anemia caused by mutations or deletions in globin genes, leading to insufficient synthesis of globin peptide chains. Those who lack beta chains are referred to as having beta-thalassemia, and those who lack alpha chains are known as having alpha-thalassemia. Clinically, it is classified into mild, intermediate, and severe forms based on the severity of anemia. The disease is widespread in many regions of the world, including the Mediterranean, the Middle East, Africa, Southeast Asia, and southern China. In China, it is more commonly found in Guangxi, Guangdong, Sichuan, Hong Kong, northern Taiwan, Yunnan, Guizhou, Hainan, Fujian, Hunan, and Hubei, and less commonly in the north. Thalassemia is fundamentally defined not as leukemia, but as a genetic disease.

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Written by He Li Fang

Hematology

1min 25sec

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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 Yin Xing

Obstetrics

1min 35sec

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What effect does thalassemia in pregnant women have on the fetus?

Thalassemia is a common hereditary hemolytic disease caused by genetic defects regulating globin synthesis, leading to reduced or absent globin production. This results in shortened red blood cell lifespan and subsequently chronic hemolytic microcytic hypochromic anemia. Thalassemia is classified into α-thalassemia and β-thalassemia. α-thalassemia is more common and includes silent carrier state, trait, HBH disease, and Hb Bart's hydrops fetalis. The silent carrier state shows no clinical symptoms with a 2% chance of hydrops fetalis in newborns. The trait generally causes mild anemia with a 3%-5% chance of hydrops fetalis in newborns. HBH disease often presents with moderate to severe permissive anemia, typically accompanied by hepatosplenomegaly, depressed nasal bridge, and widened eye distance, giving a distinct anemic appearance. β-thalassemia is categorized into mild, severe, and intermediate β-thalassemia. Mild β-thalassemia does not show visible physical changes, mainly presenting as mild anemia. Severe β-thalassemia can exhibit extramedullary hematopoiesis causing distinctive facial features, delayed sexual development, and poor growth. The severity of intermediate β-thalassemia varies; some patients require regular blood transfusions to sustain life, allowing survival into adulthood.