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.
- 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.
- 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
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