Can carriers of thalassemia have babies?

Written by Li Fang Fang
Hematology
Updated on September 12, 2024
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Thalassemia carriers refer to individuals where one of the four genes is a pathogenic gene. Such patients can have children. However, it is advised that the other parent of the child be completely normal. Even if the other parent is completely normal, the child has a fifty percent chance of being completely normal and a fifty percent chance of also being a carrier of thalassemia. However, although they are carriers of thalassemia, they usually do not exhibit obvious symptoms of anemia, generally having no anemia or only very mild anemia.

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Written by He Li Fang
Hematology
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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 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 Zhang Xiao Le
Hematology
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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.

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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.

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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.