A 47-year-old man was referred to the genomics laboratory for alpha thalassemia testing because of microcytosis without anemia. Dosage analysis (PCR and Multiplex Ligation Probe Analysis) was used to detect deletion and duplication-type mutations and the Hb Constant Spring and alphaT Saudi point mutations within the alpha globin gene cluster. This method uses multiple probes that hybridize throughout the alpha-gene locus on chromosome 16 from the HS-40 regulatory region through the 3' hypervariable region.
The correct answer is ...
The correct answer is: ααα(anti-4.2)/-3.7α; Additional studies are required to determine if the abnormalities are in cis or trans in order to explain the patient’s phenotype.
Alaa Koleilat, Ph.D.
Resident, Laboratory Genetics and Genomics
Linda Hasadsri, M.D., Ph.D.
Consultant, Laboratory Genetics and Genomics
Assistant Professor of Laboratory Medicine and Pathology
Mayo Clinic College of Medicine and Science