Thalassemia – knowledge, diagnosis, treatment and prevention
Thalassemia is an inherited hemolytic anemia or congenital hemolytic anemia, which has been discovered and studied in the world since 1925. In Vietnam, Thalassemia disease was researched by scientists in 1960. The disease Thalassemia has been causing serious consequences for our species, causing consequences for the lives of patients and the community. However, the disease can be prevented only when there is sufficient knowledge of the disease and preventive measures starting today
Thalassemia is the most common genetic hematologic disease in the world. The disease is related to an abnormality of hemoglobin (a protein structure in red blood cells that transports oxygen), in Thalassemia patients the red blood cells are destroyed excessively leading to anemia. Normal people carry 2 healthy genes, infected people carry 2 sick genes, healthy people carry 1 sick gene and 1 healthy gene. Thalassemia is a recessive hereditary disease.
The disease is present in every country and ethnic group. The disease occurs in both men and women. It is estimated that around 7% of the world currently has the disease gene; 1.1% of couples are at risk of having a sick child; Each year about 300,000 – 500,000 babies are born with severe Thalassemia; The disease is distributed worldwide, with a high rate in the Mediterranean, Middle East, Asia – Pacific regions, of which Vietnam is one of the countries with high disease prevalence and disease genes. In Vietnam, it is estimated that currently there are about 20,000 people with severe Thalassemia, each year about 2,000 more children are born with Thalassemia, about 10 million people are carrying the Thalassemia disease gene (the carrier has no disease manifestations). but the genetic source of disease genes for the next generation).
Causes and signs of Thalassemia:
Due to the deficiency of the synthesis of a globin chain in hemoglobin of red blood cells, the deteriorated red blood cell quality makes red blood cells more susceptible to rupture (hemolysis) leading to chronic anemia. Manifestation manifestations such as:
– Bluer skin than usual
– Skin, yellow eyes
– Dark urine
– Delayed physical development
– Trouble breathing when working hard …
If the patient is not treated early and fully, there will be many complications due to anemia and iron overload on all organs that change the appearance of the patient such as short body, dirty forehead, flat nose, coral teeth, heart failure, liver failure, endocrine failure …
There are 2 main types of thalassemia:
– α(alpha) Thalassemia: Lack of α (alpha) chain
– β (beta) Thalassemia: Lack of chain chuỗi (Beta)
Both α (alpha) and β (beta) Thalassemia have 5 levels (clinical form):
– Very severe level with manifestation of pregnancy from the pregnancy in the womb (cases often cause fetal damage before birth).
– Severe level presents with severe anemia when the child is under 2 years old.
– The average level often manifests anemia clearly when the child is over 6 years old
– The degree of mildness, blood symptoms are often very discreet, the patient is usually detected only when accompanied by other medical conditions such as infection, surgery, pregnancy …
– Hidden does not show any difference, not anemia (can even donate blood).
Genetic map of Thalassemia disease:
Thalassemia disease to be treated like?
The main methods of treatment today Thalassemia:
– Treatment of anemia: Red blood cell transfusion when the patient has anemia with a hemoglobin level of 7g / dl after 2 tests without any other cause, or> 7g / dl with bone deformation. To prevent and handle unwanted effects that may occur due to blood transfusion, patients need to be closely monitored in the hospital.
– Treatment of iron overload: Iron discharge by injection or oral administration. Iron chelation should begin when serum ferritine is> 1,000 ng / ml, usually after about 20 units of erythrocyte sedimentation. Chelation treatment for life.
– Splenectomy: Only performed when blood transfusion is less effective or the splenomegaly is too painful to affect the patient’s activities.
– Hematopoietic stem cell transplant (bone marrow transplant): Applied to patients with severe illness, is the most advanced and modern method available today to cure the disease. In Vietnam, a number of large hospitals can carry out this method such as Blood Transfusion Hospital – Hematology Hospital in Ho Chi Minh City has been treating bone marrow transplant for severe Thalassemia patients since 2002, Institute of Hematology – Transfusion National Blood, National Hospital of Pediatrics. The drawback of this method is that it is difficult to find people for suitable stem cells.
Early diagnosis themselves how Thalassemia?
You should go to health facilities for examination when:
– Has any of the following symptoms: fatigue, weakness, shallow breathing, yellow skin, dark urine, bone deformation, physical retardation, splenomegaly.
– You have risk factors such as: In a family, someone with Thalassemia or in an area with high incidence.
Carry out blood tests:
– General analysis of peripheral blood cells: If the amount of hemoglobin decreases, the red blood cells are weak, have different morphology and size … With this result, the doctor can preliminarily diagnose you are likely to be Thalassemia disease or not.
– Hemoglobin electrophoresis: A method to diagnose Thalassemia disease.
– DNA testing can accurately identify the characteristics of globin synthesis genes in Thalassemia. This advanced testing technique is now available in specialized medical facilities.
Counseling and treatment care at home for patients with Thalassemia:
– A diet rich in nutrients, balanced with glucid, protid, lipid, vitamins and minerals will keep your body healthy.
– Avoid infection: Know how to keep clean, keep the body warm when it is cold, ensure food safety …
– Regular exercise, exercises suitable for age and condition.
– Vaccinate preventive vaccines such as: Influenza, Rubella, encephalitis, pneumonia, hepatitis B (especially necessary for patients with splenectomy).
– You can take folic acid to increase red blood cell formation, but must follow the doctor’s instructions.
– To keep bones strong, calcium, zinc and vitamin D supplements should be consulted with your doctor to know when to take what medicine and for how long.
– Avoid overload of iron: Do not arbitrarily take medications containing iron, restrict foods containing high iron content such as beef, dark green vegetables. Drink fresh tea daily after meals to reduce iron absorption.
– If you have a fever or symptoms of infection should see a doctor for timely treatment.
How to limit and prevent Thalassemia.
– Pre-marital counseling: Couples before marriage should be screened and tested for Thalassemia before getting married.
– If both of you have a Thalassemia disease, they should be consulted before planning to get pregnant.
– If a couple has a pregnant Thalassemia disease, they should be diagnosed at 12-18 weeks before birth, at specialized medical facilities.
– If consulted by physicians specializing in hematology, pediatrics and genetics about Thalassemia.