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 Zhang Xiao Le
Hematology
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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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Do you still need to get tested for Mediterranean pregnancy after pre-pregnancy testing?

After checking for thalassemia before pregnancy, it is still necessary to check again after becoming pregnant. The purpose of the thalassemia test is to examine some genes to see if there are any genetic issues. Additionally, the husband also needs to be cautious to see if there is a possibility of hemolysis occurring. The thalassemia screening test is aimed at those who have severe hemolysis, or have previously given birth to a child with thalassemia, or if one of the spouses is a carrier of thalassemia trait, then a re-examination is necessary.

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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.

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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.