Compound Heterozygosity for Hb Adana (HBA2: c.179G>A) and the –α^3.7/αα Thalassemia Deletion in Greece: Clinical Phenotype and Genetic Counseling

Abstract

Hb Adana (HBA2: c.179G>A) is found worldwide but is extremely rare and carriers are asymptomatic, with red cell indices similar to α⁺-thalassemia (α⁺-thal) carriers. First line screening tests are unable to detect the unstable hemoglobin (Hb). Coinheritance with the α-thal (–α^3.7) deletion is herein presented and the challenges involving genetic counseling of couples carrying the mutations are discussed.

Keywords:

• Genetic counseling
• Hb Adana
• pre pregnancy counseling
• pregnancy
• thalassemia

Disclosure statement

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.