What is thalassemia?

Written by He Li Fang
Hematology
Updated on September 26, 2024
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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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How to test for thalassemia?

Thalassemia is a genetic disease, a hereditary condition, caused by abnormal production of globin in hemoglobin, leading to hemolytic anemia. Patients with thalassemia should first undergo a routine blood test. If the routine blood test indicates anemia or even if there is no anemia but the red blood cells are very small, it suggests a high possibility of thalassemia. At this point, further screening for thalassemia genes should be conducted to confirm the diagnosis. Once thalassemia is definitively diagnosed, it can be classified as mild, moderate, or severe based on the genotype.

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Do you still need to get tested for Mediterranean pregnancy after pre-pregnancy testing?

After checking for thalassemia before pregnancy, it is still necessary to check again after becoming pregnant. The purpose of the thalassemia test is to examine some genes to see if there are any genetic issues. Additionally, the husband also needs to be cautious to see if there is a possibility of hemolysis occurring. The thalassemia screening test is aimed at those who have severe hemolysis, or have previously given birth to a child with thalassemia, or if one of the spouses is a carrier of thalassemia trait, then a re-examination is necessary.

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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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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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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.