Can a fetus with thalassemia be kept?

Written by He Li Fang
Hematology
Updated on September 19, 2024
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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
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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 He Li Fang
Hematology
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How long can someone with thalassemia live?

The lifespan of patients with thalassemia depends on its specific type. Thalassemia is categorized into four types: silent carrier, thalassemia trait, hemoglobin H disease, and hemoglobin Bart's hydrops fetalis syndrome. Among these, silent carriers and those with thalassemia trait present no clinical symptoms or characteristics. Patients with hemoglobin H disease appear normal at birth and show no symptoms of anemia before the age of one. As they age, the characteristics of hemoglobin H disease gradually emerge, manifesting as mild to severe chronic anemia. However, these patients do not exhibit the physical appearance typical of hemoglobin anemia, their physiological development is normal, and they can live long term without significant impact on lifespan. Patients with hemoglobin Bart's hydrops fetalis syndrome can cause stillbirth, miscarriage, or premature birth during the late pregnancy stages of 30 to 40 weeks, and most die within hours, significantly affecting lifespan. Thalassemia is also divided into mild, intermediate, and severe forms. Most patients with mild thalassemia have no symptoms, though a few may show signs of mild anemia and have normal growth and development without skeletal abnormalities. Severe thalassemia patients, however, are indistinguishable from normal infants at birth but start to show clinical symptoms between three to six months old, and the anemia progressively worsens. They require regular blood transfusions for survival. These patients often evolve to develop the typical appearance associated with thalassemia. Due to long-term transfusions, they suffer from iron overload, compromised immune systems, recurrent infections, and myocardial damage. Consequently, many children with severe thalassemia die young, and those who live into their teens often exhibit delayed sexual maturity and underdeveloped secondary sexual characteristics.

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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 Li Fang Fang
Hematology
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The difference between iron deficiency anemia and thalassemia

Iron deficiency anemia and thalassemia have similarities in that both are classified as microcytic hypochromic anemia. However, iron deficiency anemia and thalassemia are two distinct diseases that require further differential diagnosis. Iron deficiency anemia is caused by iron deficiency, often due to chronic blood loss, and it can be cured if the cause is removed and iron supplementation treatment is provided. Thalassemia is a genetic disease with hereditary factors, and there is no particularly effective treatment; iron supplementation is ineffective. Treatment mainly involves red blood cell transfusions and is not curable.

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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.