Thalassemia Mutation Test | Prima | MedGenome - Part 18001033691

What is Thalassemia Mutation Testing?

Thalassemia Mutation Testing refers to the analysis of HBA1 and HBA2 genes for alpha-thalassemia and HBB gene for beta-thalassemia to understand the presence of the mutation and inheritance patterns that lead to thalassemia.  

Prevalence

  • The average prevalence of beta-thalassemia carriers is 3% to 4%
  • Estimates indicate that there are around 1,00,000 patients with beta-thalassemia syndrome, however, exact numbers are not available due to the absence of a national registry of patients.

Common disorders

  • Beta-thalassemia (β-thalassemia) can be caused by homozygous or compound heterozygous mutations in the HBB gene.
  • Alpha-thalassemia (α-thalassemia) is caused by mutations in the HBA1 and HBA2 genes
  • It has two clinically significant forms:
    • Hemoglobin Bart hydrops fetalis (Hb Bart) syndrome – caused by deletion of all four α-globin genes
    • Hemoglobin H (HbH) disease – most frequently caused by deletion of three α-globin genes.
  •  

Why do you need the test?

  • Identification of pathogenic variants (mutations) in HBA1, HBA2 or HBB gene may be useful for diagnosis in individuals at risk, identified by other non-molecular tests
  • If the pathogenic variants have been identified in an affected family member, molecular genetic testing of at-risk siblings should be offered for an early diagnosis and appropriate treatment.

Who needs to get tested?

  • Individuals suspected of having beta-thalassemia, alpha thalassemia, or hemoglobinopathies
  • Carrier screening for mutation identification
  • Evaluation of a relative of an individual with known thalassemia
  • Prenatal diagnosis of pregnancies at risk of thalassemia

 

Why MedGenome?

MedGenome offers thalassemia tests for carrier screening, diagnosis, mutation detection, identification of deletion/duplication, and small InDels in case of:

  • Beta-thalassemia - HBB gene
  • Alpha-thalassemia - HBA1 and HBA2 genes
  • Thalassemia panel (HBB, HBA1, and HBA2 genes)
  • Sickle cell anemia

Significance of beta-thalassemia test

  • Includes full gene sequencing and gross deletion/duplication analysis of the HBB gene and not just hotspots
  • Detects almost all disease-causing mutations and is appropriate to clarify and/or confirm a suspected diagnosis of beta-thalassemia, sickle cell disease, or sickle-beta-thalassemia disease
GeneTest MethodThe proportion of pathogenic variants detectable by this method
HBBSequence analysis by NGS (point mutations/small indels in coding regions and splice junctions)~90%
HBBGene-targeted deletion/duplication analysis~10%

List of common mutations covered in beta-thalassemia

VariantcDNA PositionCovered by our test
IVS1-5c.92+5G>CNGS
Codon41/42(-TCTT)c.125_128delTCTTNGS
Codon 30 (G>C)c.92G>CNGS
IVS1-1 (G>T/A)c.92+1G>ANGS
619-bp deletionMLPA
Codon 8/9(+G)c.27dupGNGS
codon 15 (G>Ac.47 G>ANGS
Codon 16 (-C)c.51delCNGS
poly-A site (T>C)c.*110T>CNGS
Codon 15 (-T)c.46delTNGS

* This is a list of mutations covered over and above common mutations

Significance of alpha-thalassemia test

  • Includes full gene sequencing and gross deletion/duplication analysis of HBA1 and HBA2 genes and not just hotspots
  • Detects almost all disease-causing mutations and is appropriate to clarify and/or confirm a suspected diagnosis of alpha-thalassemia
GeneTest MethodThe proportion of pathogenic variants detectable by this method
HBA1 and HBA2Targeted deletion analysis~85%
HBA1 and HBA2Sequence analysis~15%

List of common mutations covered in alpha-thalassemia

VariantCovered by our test
Common two α-globin-gene deletionMLPA
Common single α-globin-gene deletionMLPA
c.2T>CNGS
c.94_95delAGNGS
c.95+2_95+6delTGAGGNGS
c.207C>GNGS
c.207C>ANGS
c.223G>CNGS
c.[339C>G; 340_351delCTCCCCGCCGAG]NGS
c.377T>CNGS
c.*94A>GNGS

* This is a list of mutations covered over and above common mutations

Brochures

Thalassemia Mutation Testing

Patient Stories

Amit & Akhila (name changed), a non-consanguineous couple with clinical indication of primary infertility consulted a leading gynaecologist in India.

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