What is Thalassemia? Is it anemia?
Thalassemia is an autosomal recessive inherited anemia cause by genetic abnormalities. There is a mutation in the globin gene that controls the production of globin chains, which are an important component of hemoglobin in red blood cells. This causes the red blood cells to have a shorter lifespan than normal, resulting in anemia, which causes the body’s organs to receive less oxygen than they should. These genes are inherited from half father and half mother. There are many types of abnormalities, including those that produce less globin or create abnormal globin chains. The severity depends on the type and number of abnormal genes.
Thalassemia carriers in Thai people
In Thailand, it was found that there is a large population of thalassemia carriers, which can be divided into the following types:
- 20-30% are alpha thalassemia carriers.
- 13% are hemoglobin E carriers and
- 9% are carriers of beta
How many types of thalassemia are there?
Thalassemia is divided into two main types
1. What is alpha thalassemia ?
Alpha Thalassemia is caused by สมัครสมาชิก UFABET วันนี้ รับเครดิตฟรีทุกวัน mutations in the gene that controls the production of alpha globin. Which is located on chromosome 16. There are four alpha globin genes in total. The severity depends on the type and number of abnormal genes. It can be classified as:
- alpha thalassemia carrier alpha trait
If there are 1-2 abnormal genes, it is call carrier (thalassemia trait), which is not yet consider a disease. Therefore, there no abnormal symptoms and no need for treatment. It can be passed on to children. In most blood tests. It will be found. That the red blood cells are small.
- Hemoglobin H disease Hb H disease
If there are 3 abnormal genes, it is call a type call Hb H disease. Patients will have anemia. It is usually not severe. They do not need to receive blood regularly. Acute hemolysis during fever or infection. They have excess iron in their body. Therefore, they should see a doctor regularly.
- hydrop fetalis
If there are 4 abnormal genes, it is call Hb Bart’s hydrops fetalis. Which means the baby has swelling all over the body. The baby usually dies in the womb or after birth. It is consider the most severe type of thalassemia. Couples who want to have children. Should get screen to make sure. That the baby is not at risk of this condition.
2. What is beta thalassemia ?
Beta thalassemia is cause by mutations in the gene. That controls the production of beta globin, which is located on chromosome 11. There are two beta globin genes in total. The severity depends on the type and number of abnormal genes. It can be classified as:
- Beta thalassemia minor carrier
If one gene is abnormal, it is call a thalassemia. Which is not yet consider a disease. There will be no abnormal symptoms and no need for treatment. But it can pass on to children. In most blood tests, small red blood cells will found.
Beta thalassemia intermedia
If there are 2 abnormal genes that are not severe, the patient will have anemia. It is usually not severe. Most do not need to receive blood regularly. There may be a condition where there is excess iron accumulation in the body. Therefore, they should see a doctor regularly. (except for the abnormality of hemoglobin E (homozygous hemoglobin E). Which is not consider a disease and does not require treatment, similar to thalassemia carriers).
Beta thalassemia major
If the gene is abnormal in 2 severe positions, the patient will have severe anemia, enlarged liver and spleen, facial changes, abnormal growth, osteoporosis, bloodstream infections, gallstones, extramedullary bone marrow, pulmonary artery hypertension, chronic leg ulcers, and often have excess iron accumulated in various organs, adversely affecting the heart, liver, and endocrine system.
The patient will need to receive blood transfusions every month and closely monitor the iron overload. Couples who want to have children should screen to ensure. That the baby is not at risk for this condition.