HEMOPHILIA GENNK HLA-B27 Thalassemia NK-CELL ACTIVITY TEST

Thalassemia

Definition

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). ).

Ratinale

According to the initial results of the survey on Thalassemia gene carrier status nationwide in 2017, there are currently over 12 million people in Vietnam carrying the Thalassemia gene. Diseased people and carriers of disease genes are found in all provinces/cities, in all ethnic groups nationwide.
Currently, there are more than 20,000 people with Thalassemia requiring lifelong treatment and every year about 8,000 more children are born with Thalassemia, of which about 2,000 children have severe disease and about 800 children cannot be born due to edema. pregnant.
The average cost of treatment for a severely ill patient from birth to 30 years old is about 3 billion VND. Over 2,000 billion VND is needed each year so that all patients can be treated (at a minimum) and about 500,000 units of safe blood are needed.
The mainstay of treatment is a blood transfusion (red blood cell transfusion) and iron chelation. The best prevention measure is to raise public awareness and limit the birth of sick children.
When both an alpha or beta carrier have a child together, there is a one in four (25%) chance that their child will be born with a serious blood disease that will require a blood transfusion. life and drug treatment.

=> So if you and your husband are both genetic carriers of beta or alpha thalassemia and are planning to have children, you should consult a genetics specialist.

How to know if you are a gene carrier

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

DNA ANALYSIS TO DETERMINATE THALASSEMIA GENE Mutations AT GENTIS

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.

Thalassemia testing expanded: Testing to detect gene mutations related to alpha thalassemia and beta thalassemia includes

Detection of 5 common mutations associated with alpha thalassemia: -αSEA; -α3.7; -α4.2; CS; QS.

Detection of over 800 mutations located within the coding region of the HBB gene reported in databases related to Beta Thalassemia and hemoglobin disorders, including 16 common mutations such as CD41/42, CD43, IVS-II-654, -28, -29, CD71/72, CD26, CD17, CD14/15, CD27/28, CAP, Int, IVS-I-1(G-T), IVS-I-1(G-A), IVS-I-5, CD31.
Other mutations include point mutations, deletions, and insertions (less than 4 nucleotides) within the coding region and nearby intronic regions (-10/+10 nucleotides from the exon) of the HBB gene. A negative result does not exclude the presence of additional larger insertions/deletions or indels greater than 4 nucleotides in the sample.

Detect mutant genotype: homozygous or heterozygous
Method:
- Uses US patented Hybrid-Flow Hybridization technology
- Using agarose electrophoresis and capillary electrophoresis (sanger sequensing)
- Amplification of all exons of the HBB gene and sequencing on the NGS sequencing system of Illumia (USA)
Time to return results: 3 days from the date of receipt of samples

about gentis

HISTORY: Born in 2010 - GENTIS is a pioneer in the field of genetic analysis in Vietnam.

EXPERIENCE: We've done >3,000,000 tests.

TECHNOLOGY: GENTIS Using the world's leading advanced new technologies. Next Generation Gene Sequencing (NGS), Realtime PCR, iScan System; Sanger sequencing; Flow Cytometry technique...

INTERNATIONAL RECOGNITION: ISO 9001:2015 issued by the UK, ISO 1589:2012 issued by BoA...

LARGE LAB: 02 leading modern labs in Hanoi and HCM

EXPERT: GENTIS is accompanied by leading experts: Prof. Dr. Nguyen Dinh Tao, Assoc. Prof. Dr. Trinh Dinh Dat, Assoc. Prof. Dr. Vu Ba Quyet, Colonel Ha Quoc Khanh, Assoc. .

TEAM: GENTIS staffs and technicians were selected for training, underwent many training courses of the Ministry of Health, international firms...