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

Written by Du Rui Xia

Obstetrics

Updated on September 06, 2024

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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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Written by He Li Fang

Hematology

1min 18sec

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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.

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Written by He Li Fang

Hematology

2min 35sec

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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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Written by Zhang Xiao Le

Hematology

43sec

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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

1min 7sec

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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 Zhang Xiao Le

Hematology

52sec

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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.