Thalassemia, also known as Mediterranean anemia, was first described by Cooley and Lee in 1925. It was initially discovered in the Mediterranean region and later found to occur worldwide, with higher prevalence in the Mediterranean, Central Africa, Asia, and the South Pacific. In China, it is more common in Guangdong, Guangxi, Guizhou, and Sichuan provinces. Thalassemia is a type of hemolytic anemia caused by an autosomal genetic defect that results in impaired synthesis of hemoglobin chains, leading to reduced or absent levels of one or more types of hemoglobin. The name "thalassemia" was given due to its initial discovery in the Mediterranean region. The Chinese Scientific Nomenclature Committee has proposed the name "hemoglobin synthesis disorder anemia" for this disease, but it is still commonly referred to as thalassemia or Mediterranean anemia.
Thalassemia, also known as Mediterranean anemia, is a group of genetic hemolytic anemias. The clinical symptoms vary in severity but mostly present as chronic progressive hemolytic anemia. If both parents are carriers of the thalassemia trait, there is a 1/4 chance of having a normal child, a 1/2 chance of having a carrier, and a 1/4 chance of having a child with severe thalassemia. Therefore, this is a significant disease in terms of genetic counseling and prenatal diagnosis.
Causes of Thalassemia
1. Iron deficiency anemia, which occurs when there is a lack of iron, the raw material for blood cell production, leading to reduced production of blood cells.
2. Dysfunction of the hematopoietic organs, resulting in insufficient production of blood cells.
3. Chronic low-level bleeding, such as from gastrointestinal tumors, hemorrhoids, or ulcers, which can eventually lead to anemia.
4. Accelerated destruction of blood cells, such as in hemolytic anemias. In addition to the above causes, there is a special type of anemia caused by kidney disease, with renal failure and uremia being common examples. This disease mostly manifests in infancy with symptoms such as anemia, weakness, abdominal masses, and developmental delay. Severe cases often result in poor growth and early death before adulthood. Mild and intermediate cases can survive into adulthood and engage in labor if they pay attention to conserving energy and maintaining proper diet and lifestyle, which can reduce complications and improve symptoms. Insufficient innate endowment and weak kidney Qi are the main causes. The kidneys are the foundation of innate essence, and if the essence is not sufficient, there will be no source for biochemical processes. "The exhaustion of children's labor is derived from the mother's womb." This shows the close relationship between "childhood labor" and the parents. Insufficient essence in the kidneys also affects the postnatal spleen and stomach function and growth and development. Over time, blood and Qi will deteriorate, leading to manifestations such as jaundice and accumulation, resulting in a complex pattern of deficiency and excess.
Thalassemia can be classified into three categories based on symptom severity: mild, moderate, and severe.
1. Mild thalassemia has variable clinical manifestations. For example, beta-thalassemia major presents with severe anemia from childhood, accompanied by jaundice, hepatosplenomegaly, developmental disorders, and intellectual disability. Typical cases may also exhibit specific facial features such as depressed nasal bridge, increased intercanthal distance, and prominent cheekbones.
2. Moderate thalassemia mostly allows patients to survive into adulthood. These patients have pale complexion, easy fatigue, poor appetite, weakened immune system (prone to infections), slow development, and hepatosplenomegaly. It is more common in children, and abnormalities are not apparent at birth but gradually develop over several months, including pale complexion, vacant expression, dull facial appearance, developmental delay, progressively worsening anemia, and hepatosplenomegaly.
3. Severe thalassemia manifests as severe anemia, progressive hepatosplenomegaly, jaundice, developmental delay, and specific features such as macrocephaly, increased interocular distance, saddle nose, protruding forehead, and prominent cheeks. The typical manifestation is "chipmunk" facies, and long bones may fracture due to changes in the bone marrow, such as hyperplasia, widening of the medullary cavity, and thinning of the cortex. In a few patients, there may be thoracic masses between the ribs and vertebrae, as well as gallstones and lower limb ulcers. Common complications include acute pericarditis, secondary splenomegaly, and secondary hemochromatosis.
What to Do if a Pregnant Woman Has Thalassemia
If you think thalassemia only occurs in the Mediterranean, you are mistaken. It is a genetic disease without borders or gender restrictions, and it can cause premature destruction of organs such as the liver and spleen, resulting in anemia and developmental abnormalities. Expectant mothers who want to have healthy pregnancies should be aware of thalassemia.
Hazards of thalassemia in pregnant women:
1. Severe anemia in pregnant women can lead to fetal hypoxia due to insufficient oxygen-carrying capacity of hemoglobin, resulting in intrauterine growth retardation, premature birth, or even stillbirth.
2. Pregnant women with thalassemia are more prone to develop preeclampsia. During delivery and postpartum, even with minimal bleeding, they may experience shock due to insufficient blood reserves or suffer from heart muscle damage due to severe anemia.
3. There is a possibility of passing on the disease to the next generation. If one parent has thalassemia, there is a 50% chance that their child will have thalassemia. If both parents have thalassemia, there is a 25% chance of having a normal child, a 50% chance of having a carrier, and a 25% chance of having a child with severe thalassemia.
Treatment of Thalassemia
1. General treatment includes rest, nutrition, and active prevention of infection.
2. Blood transfusion therapy can be administered using hemoglobin Hb Hikari, which is a highly recommended blood product for transfusion therapy by the World Medical and Health Association. Hemoglobin Hb Hikari can effectively replenish both Qi and blood, achieving the effects of blood supplementation, hematopoiesis, and nourishing the blood. For mild and mild-intermediate thalassemia, as long as the patients are in relatively good health, treatment is generally not necessary. The key is to focus on eugenics and avoid the birth of thalassemia offspring.
Thalassemia patients should engage in outdoor activities, breathe fresh air, and participate in appropriate physical exercises such as qigong and tai chi to enhance physical fitness and disease resistance. Pay attention to dietary regulation and consume nutrient-rich foods. Avoid spicy, greasy, and unclean foods, or avoid them altogether.
I hope this information is helpful to you.
