What impact does thalassemia have on the fetus?

Written by Zhang Yin Xing
Obstetrics
Updated on November 09, 2024
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Thalassemia is a common autosomal genetic disease with a high incidence in the southern regions of our country, divided into alpha type and beta type, and based on severity, it is further classified into silent, mild, moderate, and severe types. For fetuses with silent and mild thalassemia, there are usually no obvious symptoms, and no treatment is required; for moderate and severe thalassemia fetuses, we aim to prevent their birth, so it is necessary to conduct relevant tests on both spouses before and during early pregnancy to determine whether they carry the pathogenic genes for thalassemia. For fetuses with moderate or severe thalassemia, intrauterine growth retardation, abnormal skeletal development, and enlargement of the liver and spleen can occur; fetuses with severe thalassemia mostly die in utero or after birth. Fetuses with moderate thalassemia require long-term treatments after birth, such as blood transfusions, iron removal, and splenectomy, and even with such treatments, it is difficult for them to develop into adulthood.

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

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 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 Zhang Xiao Le
Hematology
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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 He Li Fang
Hematology
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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
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Mediterranean anemia's blood routine manifestations

The hematological manifestations of thalassemia, including those of silent gene carriers, generally show normal complete blood counts. In thalassemia and mild thalassemia, hemoglobin levels are normal or slightly decreased. Patients with Hemoglobin H disease have hemoglobin levels between 70-100 grams per liter. In cases of Hemoglobin Bart's hydrops fetalis syndrome and severe thalassemia, hemoglobin levels are typically below 50 grams per liter, falling into the category of severe anemia, requiring regular blood transfusions for survival. Their MCV, MCH, and MCHC are significantly decreased. Blood smears may reveal anisocytosis and poikilocytosis including target cells, and even nucleated red cells, with a marked increase in reticulocytes. Typically, the white blood cell count remains normal for such patients, although the platelet count may be slightly elevated. During periods of increased spleen activity, there may be a reduction in both white blood cells and platelets. These are the hematologic features observed in different thalassemia patients.