Is Mediterranean anemia leukemia?

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

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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 Zhang Xiao Le
Hematology
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Is the level of ferritin high or low in thalassemia?

In thalassemia, ferritin levels are generally normal. Clinically, both thalassemia and iron deficiency anemia present as microcytic hypochromic anemia. The simplest differentiation between the two is by checking ferritin levels. In iron deficiency anemia, ferritin levels are usually significantly decreased, whereas in thalassemia, ferritin levels tend to be normal. If microcytic hypochromic anemia is detected with normal ferritin levels, further tests such as hemoglobin electrophoresis and screening for thalassemia genes are needed to confirm if it is thalassemia, the specific type, and the severity, to guide subsequent treatment methods.

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Written by Zhang Yin Xing
Obstetrics
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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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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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Written by Li Fang Fang
Hematology
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What is thalassemia?

Thalassemia, also known as hemoglobin synthesis disorder anemia, refers to a group of hemolytic diseases caused by abnormal hemoglobin genes resulting in abnormal hemoglobin protein or quantity. Thalassemia can be divided into α-thalassemia and β-thalassemia, depending on the type of hemoglobin affected. Thalassemia can vary in severity; individuals with mild thalassemia can live for a long time and may not require regular red blood cell transfusion support in daily life, whereas those with severe thalassemia may die shortly after birth.