Dietary Considerations for Thalassemia

Written by Li Fang Fang

Hematology

Updated on September 05, 2024

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Thalassemia, also known as hemoglobin synthesis disorder anemia, is a genetic disease that falls under the category of genetic disorders. It is caused by abnormalities in the genes related to globin, leading to a deficiency in globin quantity, which in turn causes thalassemia. Since thalassemia is a genetic disorder, there are no specific dietary considerations. The severity of thalassemia is also defined by the number of affected genes; the fewer the affected genes, the milder the condition.

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Written by Zhang Xiao Le

Hematology

1min 5sec

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What should I do about thalassemia?

Thalassemia is a hereditary hemolytic anemia. Currently, there is no specific cure for thalassemia, and treatment mainly involves symptomatic management based on the type and severity of the disease. This includes red blood cell transfusions, prevention of secondary hemosiderosis, and splenectomy, along with targeted prevention and treatment of factors that induce hemolysis, such as infections. Splenectomy is appropriate for patients whose transfusion needs are increasing, accompanied by splenic hyperfunction and significant compression symptoms. For patients with a suitable HLA-matched donor, allogeneic hematopoietic stem cell transplantation can be performed, which is currently the only effective treatment capable of curing thalassemia. Although mild thalassemia cannot be cured, prenatal genetic diagnosis is crucial for eugenics, effectively preventing the birth of fetuses with thalassemia and playing an important role in genetic health care.

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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 Li Fang Fang

Hematology

1min 5sec

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What are the harms of thalassemia?

The harm caused by thalassemia mainly comes from two aspects: one is the damage caused by anemia itself; the other aspect is that thalassemia is a hereditary disease, which can pass the pathogenic genes to the next generation. The damage from anemia can affect the nervous system, manifesting as dizziness, headache, brain fog, and tinnitus; in severe cases, it can lead to acute cerebral infarction. The cardiovascular system can be affected by reduced exercise tolerance, chest tightness and shortness of breath after activity, palpitations, and inability to lie flat at night; in severe cases, it can even cause acute myocardial infarction. The inheritance of thalassemia to the next generation depends on how many pathogenic genes are passed from both parents. The more pathogenic genes inherited, the more severe the thalassemia. Severe cases of thalassemia often result in death shortly after birth.

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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.

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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.