The difference between iron deficiency anemia and thalassemia

Written by Li Fang Fang
Hematology
Updated on September 03, 2024
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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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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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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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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.

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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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Can thalassemia be inherited by children?

Thalassemia, originally known as Mediterranean anemia or thalassemia, was named due to the early discovered cases predominantly among the Mediterranean coastal populations. However, the disease is widespread in many regions around the world, with Southeast Asia being one of the high-prevalence areas. In China, it is more commonly seen in Guangdong, Guangxi, and Sichuan, and there are also scattered cases in the provinces and regions south of the Yangtze River, while it is less common in the north. It is caused by a hereditary defect in the globin gene, leading to the absence or insufficiency of one or more globin chains in hemoglobin, resulting in anemia. This pathological state is called thalassemia. Due to the complex diversity of genetic defects, the types and quantities of the missing globin chains, as well as clinical symptoms, can vary. Thus, thalassemia encompasses a group of diseases. Being a genetic disorder, Mediterranean anemia can be inherited by children.