Thalassemia is a common genetic disorder that is caused by a genetic defect that results in the absence or deficiency of synthesis of one or more of the globin chains in hemoglobin. What are the specific manifestations of thalassemia? How to treat thalassemia? Is there any way to cure it? Let’s ask the experts to give us an answer.
Why does thalassemia occur?
Q: What is the cause of thalassemia?
A: Thalassemia is a group of autosomal incomplete dominant genetic disorders in which the synthesis of one or more peptide chains in hemoglobin is reduced or cannot be synthesized due to the defect of the pearl protein gene, resulting in changes in the composition of hemoglobin. Peardoprotein: It is a protein with the ability to carry oxygen. It is present in the body in hemoglobin in the blood and myoglobin in the muscles. Once the level of pearl protein is reduced or dysfunctional, it will lead to insufficient oxygen supply to the body tissues and the symptoms of anemia.
Q: What are the common genotypes of thalassemia? Common genotyping of blood?
A: Normal human hemoglobin contains four peptide chains, namely α, β, γ and δ. These four peptide chains combine to form three kinds of hemoglobin, when genetic defects, peptide gene deletion or point mutation, peptide synthesis disorder, thus chronic hemolytic anemia occurs. According to the peptide chain synthesis disorder, thalassemia can be divided into alpha, beta, delta beta and delta subtypes, but alpha and beta are generally the most common.
What are the manifestations of thalassemia?
Q: What are the symptoms of thalassemia major?
A: Children with β thalassemia major are asymptomatic at birth and start to develop at 3-12 months, with pale face, large liver and spleen, poor grammar, mostly accompanied by mild jaundice; they show a large head, bulging forehead, collapsed nose, and widened distance between the two eyes, forming a special thalassemia face. Severe alpha thalassemia, due to the shortened life span of red blood cells caused by genetic defects, often leads to miscarriage, stillbirth or early death of the fetus at 30-40 weeks, and the fetus presents symptoms such as toxic anemia, jaundice, edema, and enlarged liver and spleen. What are the blood manifestations?
Q: What are the manifestations of mild thalassemia?
A: Mild thalassemia is common in genotypes with heterozygous genotypes. Mild thalassemia is characterized by insignificant symptoms, patients are asymptomatic or have mild anemia, β thalassemia can be accompanied by mild splenomegaly, α thalassemia has mild changes in morphology, such as unequal size, central light staining, heterogeneity, etc.; erythrocyte permeability fragility is reduced. Mild forms of thalassemia are often detected during a physical examination of the patient.
How to detect thalassemia?
Q: What is the diagnosis of thalassemia based on?
A: The diagnosis of thalassemia is mainly based on four aspects: clinical manifestations, hematological changes, genetic examination and molecular biology analysis, due to differences in gene regulation levels, patients with the same gene mutation type may not necessarily have the same clinical manifestations. Clinical hematological changes, in addition to routine hematological examination, hemoglobin electrophoresis examination is necessary for the diagnosis of the disease.
Q: What are the risk factors for thalassemia?
A: Thalassemia is a group of abnormal hemoglobin disorders caused by hereditary peptide chain synthesis disorder, and the thalassemia gene is the direct cause of thalassemia. The parents of thalassaemia patients are often thalassaemia minor patients, or carriers of the pathology gene, and there is a 50% chance that the offspring of thalassaemia minor carriers will become thalassaemia minor carriers if they marry normal people.
What is the treatment of thalassemia?
Q: Do I need blood transfusion for thalassemia?
A: Blood transfusion is the main treatment for thalassemia, and it is best to enter washed red blood cells to avoid transfusion reactions. The small amount transfusion method is only applicable to intermediate alpha and beta thalassemia, and is not advocated for heavy beta thalassemia.
Q: Do I need iron removal therapy for thalassemia?
A: If the iron removal treatment in the patient’s body cannot keep up, endocrine disorders, lack of growth, incomplete growth, diabetes and other problems will occur. Iron removal therapy is commonly used for deferoxamine, which can increase iron excretion from urine and feces.
Q: What is the indication for splenectomy in thalassemia?
A: Patients with significantly increased blood transfusion; hypersplenism, increased erythrocyte dissection, persistent leukopenia, and thrombocytopenia; splenomegaly with significant left upper abdominal pain and possible splenic rupture patients; age 5 years or older.
Q: Can hematopoietic stem cell transplantation cure anemia?
A: Hematopoietic stem cell transplantation is the current method to cure severe beta-anemia. However, at present, HSCT still needs to face the risks of rejection and graft-versus-host.