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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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.

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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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Can carriers of thalassemia have babies?

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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What to eat for anemia in thalassemia

Thalassemia belongs to genetic diseases, hereditary diseases. The cause of the disease is due to genetic and chromosomal abnormalities that lead to congenital defects in the quantity or quality of globin production, resulting in thalassemia. Therefore, no matter what thalassemia patients eat, it cannot help in blood replenishment. For thalassemia patients with severe anemia symptoms, the primary treatment method is red blood cell transfusion support therapy, and oral medications are ineffective. It is important to note that thalassemia patients who undergo repeated red blood cell transfusions need chelation therapy.

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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)