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Thalassemia
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.
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.
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.
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.
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.
What should I eat if I occasionally feel dizzy due to thalassemia?
Patients with thalassemia who experience dizziness typically indicate worsening anemia, and can take folic acid tablets orally. Folic acid is an important raw material for the production of red blood cells, and supplementing with folic acid aids in the recovery from anemia. Thalassemia is a hereditary hemolytic anemia, and there is currently no specific drug for its treatment; it is primarily managed symptomatically. If the anemia is severe, red blood cell transfusions may also be used to correct the anemia. Additionally, severe thalasemia may consider allogeneic hematopoietic stem cell transplantation. Apart from anemia, further investigations should be conducted to rule out cervical spondylosis, cerebrovascular diseases, and otolithiasis when dealing with dizziness in thalassemia patients.
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.
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.
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.
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.