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 Li Fang Fang

Hematology

43sec

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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

1min 25sec

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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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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

40sec

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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

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.