Can a fetus with thalassemia be kept?

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

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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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Hematology
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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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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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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.

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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.