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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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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Written by Zhang Xiao Le
Hematology
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What should I do about thalassemia?

Thalassemia is a hereditary hemolytic anemia. Currently, there is no specific cure for thalassemia, and treatment mainly involves symptomatic management based on the type and severity of the disease. This includes red blood cell transfusions, prevention of secondary hemosiderosis, and splenectomy, along with targeted prevention and treatment of factors that induce hemolysis, such as infections. Splenectomy is appropriate for patients whose transfusion needs are increasing, accompanied by splenic hyperfunction and significant compression symptoms. For patients with a suitable HLA-matched donor, allogeneic hematopoietic stem cell transplantation can be performed, which is currently the only effective treatment capable of curing thalassemia. Although mild thalassemia cannot be cured, prenatal genetic diagnosis is crucial for eugenics, effectively preventing the birth of fetuses with thalassemia and playing an important role in genetic health care.

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Written by Li Fang Fang
Hematology
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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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Written by Li Fang Fang
Hematology
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What are the harms of thalassemia?

The harm caused by thalassemia mainly comes from two aspects: one is the damage caused by anemia itself; the other aspect is that thalassemia is a hereditary disease, which can pass the pathogenic genes to the next generation. The damage from anemia can affect the nervous system, manifesting as dizziness, headache, brain fog, and tinnitus; in severe cases, it can lead to acute cerebral infarction. The cardiovascular system can be affected by reduced exercise tolerance, chest tightness and shortness of breath after activity, palpitations, and inability to lie flat at night; in severe cases, it can even cause acute myocardial infarction. The inheritance of thalassemia to the next generation depends on how many pathogenic genes are passed from both parents. The more pathogenic genes inherited, the more severe the thalassemia. Severe cases of thalassemia often result in death shortly after birth.

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Written by He Li Fang
Hematology
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What is thalassemia?

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.