Can thalassemia be inherited by children?

Written by He Li Fang
Hematology
Updated on September 03, 2024
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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.

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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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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.

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Hematology
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Mediterranean anemia has symptoms such as fatigue, paleness, delayed growth, and facial bone deformities.

Thalassemia is a hereditary hemolytic anemia, and the symptoms of patients with thalassemia are related to their specific types. Thalassemia can be divided into mild, intermediate, and severe types. Mild thalassemia clinically may have no symptoms or only mild anemia, sometimes accompanied by mild splenomegaly; Intermediate thalassemia can present with moderate anemia, noticeable fatigue, and splenomegaly, with a few cases experiencing mild skeletal changes and delayed sexual development; Severe thalassemia in children manifests within the first half-year after birth with pallor, progressively worsening anemia, jaundice, hepatosplenomegaly, delayed growth and development, and distinctive facial features such as frontal bossing, a depressed nasal bridge, and increased distance between the eyes.

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Written by Zhang Yin Xing
Obstetrics
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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.

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Mediterranean anemia's blood routine manifestations

The hematological manifestations of thalassemia, including those of silent gene carriers, generally show normal complete blood counts. In thalassemia and mild thalassemia, hemoglobin levels are normal or slightly decreased. Patients with Hemoglobin H disease have hemoglobin levels between 70-100 grams per liter. In cases of Hemoglobin Bart's hydrops fetalis syndrome and severe thalassemia, hemoglobin levels are typically below 50 grams per liter, falling into the category of severe anemia, requiring regular blood transfusions for survival. Their MCV, MCH, and MCHC are significantly decreased. Blood smears may reveal anisocytosis and poikilocytosis including target cells, and even nucleated red cells, with a marked increase in reticulocytes. Typically, the white blood cell count remains normal for such patients, although the platelet count may be slightly elevated. During periods of increased spleen activity, there may be a reduction in both white blood cells and platelets. These are the hematologic features observed in different thalassemia patients.