Is the level of ferritin high or low in thalassemia?

Written by Zhang Xiao Le
Hematology
Updated on September 07, 2024
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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 Li Fang Fang
Hematology
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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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Obstetrics
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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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Written by Li Fang Fang
Hematology
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The difference between iron deficiency anemia and thalassemia

Iron deficiency anemia and thalassemia have similarities in that both are classified as microcytic hypochromic anemia. However, iron deficiency anemia and thalassemia are two distinct diseases that require further differential diagnosis. Iron deficiency anemia is caused by iron deficiency, often due to chronic blood loss, and it can be cured if the cause is removed and iron supplementation treatment is provided. Thalassemia is a genetic disease with hereditary factors, and there is no particularly effective treatment; iron supplementation is ineffective. Treatment mainly involves red blood cell transfusions and is not curable.

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Written by He Li Fang
Hematology
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Can a fetus with thalassemia be kept?

Thalassemia, commonly referred to as "Mediterranean anemia," is a hereditary hemolytic anemia caused by mutations or deletions in globin genes, leading to insufficient synthesis of globin peptide chains. Cases with a deficiency in the globin chain are called thalassemia. Regarding whether a thalassemia fetus should be carried to term, one must first consider the maternal family history, including any history of stillbirths, occurrences of hydrops fetalis (swelling in infants), or cases of severe thalassemia in children, as well as instances where both parents are carriers, marking a high-risk pregnancy. In such cases, strict prenatal diagnosis is required. Prenatal diagnosis includes taking samples of fetal chorion, amniotic fluid, and umbilical cord blood for genetic analysis. If severe thalassemia or Hemoglobin Barts Hydrops Fetalis Syndrome is detected in the fetus, the pregnancy should be terminated immediately. Therefore, it is recommended to terminate pregnancies where the fetus is found to have severe thalassemia or Hemoglobin Barts Hydrops Fetalis Syndrome.

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Written by He Li Fang
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How long can someone with thalassemia live?

The lifespan of patients with thalassemia depends on its specific type. Thalassemia is categorized into four types: silent carrier, thalassemia trait, hemoglobin H disease, and hemoglobin Bart's hydrops fetalis syndrome. Among these, silent carriers and those with thalassemia trait present no clinical symptoms or characteristics. Patients with hemoglobin H disease appear normal at birth and show no symptoms of anemia before the age of one. As they age, the characteristics of hemoglobin H disease gradually emerge, manifesting as mild to severe chronic anemia. However, these patients do not exhibit the physical appearance typical of hemoglobin anemia, their physiological development is normal, and they can live long term without significant impact on lifespan. Patients with hemoglobin Bart's hydrops fetalis syndrome can cause stillbirth, miscarriage, or premature birth during the late pregnancy stages of 30 to 40 weeks, and most die within hours, significantly affecting lifespan. Thalassemia is also divided into mild, intermediate, and severe forms. Most patients with mild thalassemia have no symptoms, though a few may show signs of mild anemia and have normal growth and development without skeletal abnormalities. Severe thalassemia patients, however, are indistinguishable from normal infants at birth but start to show clinical symptoms between three to six months old, and the anemia progressively worsens. They require regular blood transfusions for survival. These patients often evolve to develop the typical appearance associated with thalassemia. Due to long-term transfusions, they suffer from iron overload, compromised immune systems, recurrent infections, and myocardial damage. Consequently, many children with severe thalassemia die young, and those who live into their teens often exhibit delayed sexual maturity and underdeveloped secondary sexual characteristics.