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

Stamatia Theodoridou; Aikaterini Teli; Eleni Yfanti; Timoleon-Achilleas Vyzantiadis; Theodoros Theodoridis; Marina Economou

doi:10.1080/03630269.2018.1466711

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

Hemoglobin. 2018 Mar;42(2):129-131. doi: 10.1080/03630269.2018.1466711. Epub 2018 Jul 20.

Authors

Stamatia Theodoridou¹, Aikaterini Teli², Eleni Yfanti³, Timoleon-Achilleas Vyzantiadis⁴, Theodoros Theodoridis⁵, Marina Economou²

Affiliations

¹ a Haemoglobinopathy Prevention Unit , Hippokration Hospital of Thessaloniki , Thessaloniki , Greece.
² b First Depatment of Paediatrics , Aristotelion University of Thessaloniki , Thessaloniki , Greece.
³ c Thalassaemia National Centre of Greece , Laikon General Hospital of Athens , Athens , Greece.
⁴ d First Department of Microbiology , Medical School, Aristotelion University of Thessaloniki , Thessaloniki , Greece.
⁵ e First Department of Obstetrics and Gynaecology , Aristotelion University of Thessaloniki , Thessaloniki , Greece.

PMID: 30025477
DOI: 10.1080/03630269.2018.1466711

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.

MeSH terms

Erythrocyte Indices
Female
Genetic Counseling
Greece
Hemoglobins, Abnormal / genetics*
Heterozygote*
Humans
Male
Sequence Deletion*
alpha-Thalassemia / genetics

Substances

Hemoglobins, Abnormal
hemoglobin Adana