What is thalassemia?

Written by He Li Fang
Hematology
Updated on September 26, 2024
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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 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 Li Fang Fang
Hematology
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Dietary Considerations for Thalassemia

Thalassemia, also known as hemoglobin synthesis disorder anemia, is a genetic disease that falls under the category of genetic disorders. It is caused by abnormalities in the genes related to globin, leading to a deficiency in globin quantity, which in turn causes thalassemia. Since thalassemia is a genetic disorder, there are no specific dietary considerations. The severity of thalassemia is also defined by the number of affected genes; the fewer the affected genes, the milder the condition.

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Written by He Li Fang
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What tests are for thalassemia?

Thalassemia firstly requires genetic diagnosis through a series of techniques such as DNA restriction endonuclease map PCR, which identify the genotype of thalassemia. Secondly, hemoglobin electrophoresis needs to be completed. Through complete hemoglobin electrophoresis, it can discriminate between silent gene carriers and those with thalassemia, hemoglobin H disease, and hemoglobin Bart's hydrops fetalis syndrome. Additionally, a significant increase in hemoglobin A2 in overt thalassemia also has certain specificity. Thirdly, a complete bone marrow picture is necessary, which will match the bone marrow picture of hemolytic anemia. There is pronounced erythroid hyperplasia, positive iron staining, and an increase in sideroblastic erythroblasts. Fourthly, a complete blood count is needed. Different types of blood counts show different levels of hemoglobin reduction. In mild thalassemia and thalassemia traits, hemoglobin is mostly normal or mildly decreased. In severe thalassemia, hemoglobin is generally below 50 grams per liter, indicating a severe anemic state. Blood smears might show anisocytosis, poikilocytosis, and target cells. It is common to see nucleated erythrocytes and reticulocytes significantly increased, which matches the signs of hemolytic anemia. Fifth, iron metabolism testing needs to be completed. By improving iron metabolism testing, it serves as a discriminant for silent gene carriers, as well as those with thalassemia traits and patients with mild thalassemia based on serum iron, iron saturation, and serum ferritin concentration. Sixth, X-ray examination needs to be completed. Severe thalassemia features typical hair-on-end changes, visible as vertical striations between the trabeculae of the cortical bone in the skull X-rays, resembling upright hair and rays of sunlight.

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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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What is thalassemia?

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.