Α case of late diagnosis of compound heterozygosity for Hb Adana (HBA2:c.179G>A) in trans to an α+- thalassemia deletion: guilty or innocent

Background: Hemoglobin Adana is a non-deletional alpha chain mutation, particularly rare, and to date, it is mostly described in coinheritance to other a-thalassemia mutations. Such interactions result in various phenotypes depending on the underlying genotype. Since routine hematological tests do not detect the aforementioned unstable variant, it is quite likely a diagnosis to be missed or delayed, with any complications this may have for a patient. Description of the case: A case report of late mutation identification in a 64-year-old woman of Greek origin is described. The importance of conducting not only molecular studies to confirm common mutations, such as the -a3.7 kb deletion, but also DNA studies in patients whose phenotype and results of standard tests are not consistent or who present with severe, late complications is highlighted.

Conclusion: The awareness of the necessity for accurate diagnosis is raised, especially in populations that thalassemia prevails and is attributed to numerous mutations. HIPPOKRATIA 2020, 24(1): 38-42.