Wendy M Hutchison1, Kerryn M Weekes1, Jeremy N Wells1, Ruoxin Li1, Nicholas Clark1, Anita Feigin2,3, Asif Alam1, Elizabeth Algar4, Zane Kaplan2
1 Thalassaemia & Haemophilia Molecular Reference Laboratory, Level 3 Monash Medical Centre 246 Clayton Road, CLAYTON, VIC, 3168, firstname.lastname@example.org
2 Medical Therapy Unit, Level 2 Monash Medical Centre 246 Clayton Road, CLAYTON, VIC, 3168
3 Genetics Services, Monash Medical Centre 246 Clayton Road, CLAYTON, VIC, 3168
4 Genetics and Molecular Pathology, Level 3 Monash Medical Centre 246 Clayton Road, CLAYTON, VIC, 3168
Copy number variations in the α-globin genes are the result of unequal crossover between homologous segments in the α-globin gene cluster that misalign during meiosis. The reduction or increase in α-globin gene copy number leads to an imbalance of α and β-globin chains in the haemoglobin tetramer and consequently ameliorates or exacerbates
β thalassaemia clinical symptoms.
We describe a couple with one partner, with transfusion-dependent β thalassaemia major, who is a compound heterozygote for two beta-globin splice site mutations and heterozygous for both the anti3.7 alpha-globin gene triplication and the alpha-globin -3.7 single gene deletion mutation. The second partner is heterozygous for the anti3.7 alpha-globin gene triplication.
Possible genotype combinations and clinical phenotypic risks are discussed.
After many years working in Molecular Genetics Research Wendy moved to the Thalassaemia and Haemophilia Molecular Reference laboratory at Monash Health in 2013.