What is thalassemia?

  Thalassemia is also known as thalassemia. It is a group of hereditary hemolytic anemias. The clinical symptoms vary in severity, mostly presenting as chronic progressive hemolytic anemia. The disease is common in Mediterranean coastal countries and Southeast Asian countries, hence the name. It is common in south and southwest China, with an incidence of 5-6% in Guangdong, and a higher incidence in Guangxi, Hainan, Sichuan, Chongqing and other provinces, but less common in the north.  Thalassemia is divided into two categories: type A and type B, and according to the severity of the disease, each is divided into light and heavy. Patients with thalassemia major A are usually stillborn or die after birth, and the stillborn fetus is edematous, with a large belly and a particularly large placenta, so it is also known as “edematous fetal syndrome”. Patients with thalassemia major are often born with no abnormalities, but after a few months they slowly develop a pale, demented face and stunted growth, and their anemia worsens, often requiring intermittent blood transfusions to keep them alive.  It is difficult for the child to live into adulthood, and this places a heavy financial and emotional burden on the family and society. Patients with mild forms of the disease are often asymptomatic or only mildly anemic, and their physical strength, intelligence and life expectancy are not affected. If two young people with the same type of mild thalassemia get married, there is a 1 in 4 chance of having a child with severe disease, which is why children with severe disease continue to be born in areas with a high prevalence of thalassemia like Guangdong. The most effective way to prevent the birth of a child with severe thalassemia is to perform prenatal diagnosis.  Mild thalassemia does not require special treatment. Intermediate and severe forms of thalassemia should be treated in one or more of the following ways  1. General treatment, attention to rest and nutrition, active prevention of infection. Take appropriate folic acid and vitamin E supplements. 2. Blood transfusion and treatment. The method of small amount of red blood cell transfusion is only applicable to intermediate α and β thalassemia, and is not advocated for heavy β thalassemia. For heavy β thalassemia, medium and high amount of blood transfusion should be given from early stage to make the child’s growth and development close to normal and to prevent bone lesions. The method is: first, repeatedly transfuse concentrated red blood cells to make the child’s hemoglobin content reach 120-150g/L; then transfuse concentrated red blood cells 10-15ml/kg every 2-4 weeks to maintain the hemoglobin content above 90-105g/L. However, this method can easily lead to iron-containing hemoglobinosis, so iron chelating agents should be given at the same time.  3. Iron chelating agents, commonly used as desferrioxamine, can increase iron excretion from urine and feces, but cannot prevent iron absorption from the gastrointestinal tract.  Can thalassemia patients develop normally during puberty?  Many patients with thalassemia do not develop normally during puberty because the excess iron load in the body damages not only the endocrine glands that control sexual development, but also the gonads themselves (testes in boys or ovaries in girls), which usually occurs in those patients who did not receive perfect treatment early in life. However, the majority of patients with thalassemia who are treated throughout their lives are able to grow normally and have normal sexual development during adolescence. The earlier treatment is initiated, the better the chance of having a normal puberty.