Compound Heterozygosity for Hb Adana (HBA2: c.179G>A) and the -α3.7 /αα Thalassemia Deletion in Greece: Clinical Phenotype and Genetic Counseling

Hemoglobin
Stamatia TheodoridouMarina Economou

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 (-α3.7) deletion is herein presented and the challenges involving genetic counseling of couples carrying the mutations are discussed.

References

Feb 1, 1997·British Journal of Haematology·V ChanT K Chan
Feb 12, 2010·Journal of Pediatric Hematology/oncology·Marina EconomouAthanassiou-Metaxa Miranda
Jul 21, 2010·Hemoglobin·Ita M NainggolanIswari Setianingsih
Apr 25, 2012·Annals of Hematology·Ersi VoskaridouUNKNOWN Greek Haemoglobinopathies Study Group

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