What are the harms of thalassemia?

Written by Li Fang Fang
Hematology
Updated on September 19, 2024
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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.

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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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Hematology
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How long can someone with thalassemia live?

The lifespan of patients with thalassemia depends on its specific type. Thalassemia is categorized into four types: silent carrier, thalassemia trait, hemoglobin H disease, and hemoglobin Bart's hydrops fetalis syndrome. Among these, silent carriers and those with thalassemia trait present no clinical symptoms or characteristics. Patients with hemoglobin H disease appear normal at birth and show no symptoms of anemia before the age of one. As they age, the characteristics of hemoglobin H disease gradually emerge, manifesting as mild to severe chronic anemia. However, these patients do not exhibit the physical appearance typical of hemoglobin anemia, their physiological development is normal, and they can live long term without significant impact on lifespan. Patients with hemoglobin Bart's hydrops fetalis syndrome can cause stillbirth, miscarriage, or premature birth during the late pregnancy stages of 30 to 40 weeks, and most die within hours, significantly affecting lifespan. Thalassemia is also divided into mild, intermediate, and severe forms. Most patients with mild thalassemia have no symptoms, though a few may show signs of mild anemia and have normal growth and development without skeletal abnormalities. Severe thalassemia patients, however, are indistinguishable from normal infants at birth but start to show clinical symptoms between three to six months old, and the anemia progressively worsens. They require regular blood transfusions for survival. These patients often evolve to develop the typical appearance associated with thalassemia. Due to long-term transfusions, they suffer from iron overload, compromised immune systems, recurrent infections, and myocardial damage. Consequently, many children with severe thalassemia die young, and those who live into their teens often exhibit delayed sexual maturity and underdeveloped secondary sexual characteristics.

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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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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.