Screening for more than 500 thalassemia variants.
ThalaSEQ uses NGS and GAP-PCR to screen for alpha- and beta-thalassemia variants, including rare types.
FREE Genetic Counseling
Thalassemia in Indonesia
Thalassemia: a genetic blood disorder
Thalassemia is a non-communicable genetic disorder caused by changes in genes that affect hemoglobin production.
People worldwide carry thalassemia traits
Newborns each year with severe hemoglobin disorders
Children who die from beta-thalassemia (β)
Thalassemia cases occur in developing countries, including Indonesia
Causes of thalassemia
Thalassemia is mainly caused by impaired production of the alpha or beta chains that make up hemoglobin.
Normal hemoglobin production
Hemoglobin-chain production is normal.
Impaired alpha-chain production
Reduced or absent production of alpha-chain hemoglobin subunits.
Impaired beta-chain production
Reduced or absent production of beta-chain hemoglobin subunits.
Thalassemia inheritance
For certain variant combinations, when both parents carry pathogenic variants affecting the same globin gene, each pregnancy may have a 25% chance of an affected child. Actual risk depends on the variants and inheritance pattern; seek genetic counseling.
If one parent carries a thalassemia variant and the other does not carry a relevant variant, each child has a 50% chance of inheriting that variant. This does not predict disease.
Thalassemia severity and care needs vary. Some people with intermedia or major forms may need transfusions; chelation may be used to manage iron overload, and stem-cell transplantation may be considered by specialists. Carriers often need no treatment, but symptoms should be assessed by a clinician.
Ministry of Health recommendation
Thalassemia screening and diagnosis
Routine screening
A commonly used screening method. However, 11.8% of negative results were found to be thalassemia carriers.
11,8%Routine blood test
An additional method using routine blood tests. In 21% of cases, people identified as negative were found to carry the thalassemia trait.
21%DNA analysis (NGS)
Reported accuracy is ≥98% for detecting DNA changes in thalassemia-associated genes. Performance depends on the variants and methods assessed; this figure is not a guarantee of an individual result.
≥98%Thalassemia: the fifth-highest-cost disease in Indonesia
NALEYA–THALASEQ: thalassemia genetic screening
NALEYA-THALASEQ is a comprehensive thalassemia test that detects more than 500 thalassemia gene variants, including rare types.
Based on NGS & GAP-PCR
Uses next-generation sequencing (NGS) and GAP-PCR for thalassemia genetic testing.
Detection of 500+ genetic variants
Detects more than 500 thalassemia genetic variants, including >153 alpha types and >348 beta types.
3 mL blood sample
The test requires only a 3 mL blood sample.
NALEYA–THALASEQ may be considered by:
NALEYA-THALASEQ can detect four alpha-thalassemia deletions (–SEA, -α3.7, -α4.2, –THAI), more than 153 alpha-thalassemia types, more than 348 beta-thalassemia types, and genotypes for deletions and rare variants.
Examples of β variants detected: -88 (C>T), -29 (A>G), initiation codon ATG>AGG, codon 17 (A>T), Hb E, codon 41/42 (-TTCT), IVS-I-1 (G>T), IVS-I-5 (G>C), IVS-II-654 (C>T), poly-A (A>G), etc.
Testing procedure
Pre-test counseling
The patient receives pre-test genetic counseling and signs a consent form.
Sample collection
The sample is collected and sent to the laboratory.
Results
Results are sent within 20–30 working days.
Post-test counseling
The patient receives post-test genetic counseling.