Genetic screening for Thalassemia and Sickle Cell Anemia

posted Jul 17, 2017, 11:42 PM by Vinod Scaria

Referring your patient for Genetic testing of HBB gene
Genetic testing in research mode for beta-thalassemia is available through the GOMED programme for rs33915217, rs33971440, rs80356821, rs35699606, rs63750783, rs80356821 and rs63750223 that are prevalent variant in South Asian Populations.

Request a test for your patient
The tests can be requested only by Registered and practicing Clinicians. If you are a patient, you could contact your consulting clinician to refer you for genetic screening.
For further details, request forms and procedures, visit us at http://gomed.igib.in
Beta-thalassemia is a blood disorder that reduces the production of hemoglobin. People with beta thalassemia, have low levels of hemoglobin lead to a lack of oxygen in many parts of the body. It is one of the most common autosomal recessive disorder in the world. The overall prevalence of β-thalassemia varies between 5-15% across India.

Hemoglobin (Hb) tetramer is made up of two alpha globin and two beta globin chains (alpha2beta2). Beta thalassemia is caused by the reduced (beta+) or absent (beta0) synthesis of the beta globin chains of the hemoglobin. There are three major clinical conditions associated the beta-thalassemia carrier state, thalassemia intermedia, and thalassemia major.

The beta-thalassemia carrier state is clinically asymptomatic and results from heterozygosity for beta-thalassemia. Thalassemia major is a severe transfusion-dependent anemia. Thalassemia intermedia comprehends a clinically and genotypically very heterogeneous group of thalassemia-like disorders, ranging in severity from the asymptomatic carrier state to the severe transfusion-dependent type.

Genetic variants associated with Beta-thalassemia
A number of genetic variants are associated with Beta-thalassemia on HBB gene. The common mutations in Indian population include: IVS,1-5G→C(rs33915217), IVS,1-1G→T(rs33971440), Codon 41/42 (-TCTT)(rs80356821), Codon 8/9(rs35699606), trp15-to-ter(W15X)(rs63750783), and IVS1,25-BP DEL(rs63750223).



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