Thalassemia is the name of a group of blood diseases that are genetically linked. In Vietnam, there are over 12 million people carrying the genetic disease Thalassemia. You may be among them.
There are two types of Thalassemia:
- α Thalassemia due to lack of α globin chain - Alpha globin is produced by four genes, two on each strand of chromosome 16. Individuals with one or two abnormal alpha globin genes are characterized by alpha Thalassemia (also called alpha Thalassemia). mild body).
- β Thalassemia due to lack of β globin chain - Beta globin is produced by two genes, one on each chromosome 11. Individuals with an abnormal beta globin gene are characterized by beta Thalassemia (also known as beta Thalassemia minor). ).
Perform a peripheral blood cytology test to check the size of red blood cells: This value is expressed as mean red blood cell volume (MCV) and mean hemoglobin count (MCH) in your complete blood count (CBC). If your MCV is <= 85fl and your MCH is <= 28pg, you may have Thalassemia.
Other tests to be done: Electrophoresis of hemoglobin and determination of ferritin in serum, Thalassemia gene test.
The implementation of Thalassemia gene test will help determine exactly whether you carry the alpha or beta Thalassemia gene, assisting doctors in diagnosing and treating the disease effectively and providing reasonable fertility advice.
Diagram of screening and prenatal diagnosis of thalassemia, issued by the Ministry of Health on April 21, 2020
|Testing for 5 α-Thalassaemia mutations: -αSEA; -α3.7; - α4.2; -CS; QS.|
Testing 16 mutations β-Thalassaemia: -28(AG), -29(AG), Cap(-AAAC), Int(TG), CD14/15(+G), CD17(AT), CD27/28(+) C), βE(GA), CD31(-C), CD41/42 (-TTCT), CD43(GT), CD71/72(+A), IVS-I-1(GT), IVS-I-1( GA), IVS-I-5(GC), IVS-II-654(CT).
|Simultaneous identification of 21 α-thalassemia and β-thalassemia mutations and rare mutations causing Thalassemia in Vietnamese|
|5 α-Thalassaemia mutations||--SEA,-α3.7 , -α4.2, CS, QS|
|16 β-Thalassaemia mutations||-28(AG), -29(AG), Cap(-AAAC), Int(TG), CD14/15 (+G), CD17 (AT), CD27/28 (+C) ), βE(GA), CD31(-C), CD41/42 (-TTCT), CD43 (GT), CD71/72 (+A), IVS-I-1(GT)/ IVS-I-1 (GA) ), IVS-I-5 (GC), IVS-II-654 (CT)|
|Other point mutations, small deletion mutations (<10bp) on the coding region and 20bp around the HBB gene coding region (causing beta-thalassemia). Rare mutation causing hemolytic anemia in the Vietnamese population.|
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