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Thalassemia
What impact does thalassemia have on the fetus?
Thalassemia is a common autosomal genetic disease with a high incidence in the southern regions of our country, divided into alpha type and beta type, and based on severity, it is further classified into silent, mild, moderate, and severe types. For fetuses with silent and mild thalassemia, there are usually no obvious symptoms, and no treatment is required; for moderate and severe thalassemia fetuses, we aim to prevent their birth, so it is necessary to conduct relevant tests on both spouses before and during early pregnancy to determine whether they carry the pathogenic genes for thalassemia. For fetuses with moderate or severe thalassemia, intrauterine growth retardation, abnormal skeletal development, and enlargement of the liver and spleen can occur; fetuses with severe thalassemia mostly die in utero or after birth. Fetuses with moderate thalassemia require long-term treatments after birth, such as blood transfusions, iron removal, and splenectomy, and even with such treatments, it is difficult for them to develop into adulthood.
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.
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.
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)
Is Mediterranean anemia leukemia?
Thalassemia, formerly known as Mediterranean anemia or oceanic anemia, is a hereditary hemolytic anemia caused by mutations or deletions in globin genes, leading to insufficient synthesis of globin peptide chains. Those who lack beta chains are referred to as having beta-thalassemia, and those who lack alpha chains are known as having alpha-thalassemia. Clinically, it is classified into mild, intermediate, and severe forms based on the severity of anemia. The disease is widespread in many regions of the world, including the Mediterranean, the Middle East, Africa, Southeast Asia, and southern China. In China, it is more commonly found in Guangxi, Guangdong, Sichuan, Hong Kong, northern Taiwan, Yunnan, Guizhou, Hainan, Fujian, Hunan, and Hubei, and less commonly in the north. Thalassemia is fundamentally defined not as leukemia, but as a genetic disease.
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.
Can a fetus with thalassemia be kept?
Thalassemia, commonly referred to as "Mediterranean anemia," is a hereditary hemolytic anemia caused by mutations or deletions in globin genes, leading to insufficient synthesis of globin peptide chains. Cases with a deficiency in the globin chain are called thalassemia. Regarding whether a thalassemia fetus should be carried to term, one must first consider the maternal family history, including any history of stillbirths, occurrences of hydrops fetalis (swelling in infants), or cases of severe thalassemia in children, as well as instances where both parents are carriers, marking a high-risk pregnancy. In such cases, strict prenatal diagnosis is required. Prenatal diagnosis includes taking samples of fetal chorion, amniotic fluid, and umbilical cord blood for genetic analysis. If severe thalassemia or Hemoglobin Barts Hydrops Fetalis Syndrome is detected in the fetus, the pregnancy should be terminated immediately. Therefore, it is recommended to terminate pregnancies where the fetus is found to have severe thalassemia or Hemoglobin Barts Hydrops Fetalis Syndrome.
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.
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.
Can people with thalassemia not take iron supplements?
Thalassemia is a hereditary disease, classified as hemolytic anemia. Patients with thalassemia do not suffer from iron deficiency; rather, the anemia is caused by thalassemia itself, and iron supplementation is ineffective. However, if a patient with thalassemia also has concurrent iron deficiency anemia, then iron supplementation is necessary. During iron supplement treatment, it is also essential to conduct comprehensive examinations to ascertain the cause of the iron deficiency anemia and address the underlying cause.