Literature DB >> 30025477

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

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

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.

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Keywords:  Genetic counseling; Hb Adana; pre pregnancy counseling; pregnancy; thalassemia

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Year:  2018        PMID： 30025477     DOI： 10.1080/03630269.2018.1466711

Source DB:  PubMed          Journal:  Hemoglobin        ISSN： 0363-0269            Impact factor:   0.849


  1 in total

1.  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.

Authors:  A Tampaki; S Theodoridou; Ch Apostolou; E E Delaki; E Vlachaki
Journal:  Hippokratia       Date:  2020 Jan-Mar       Impact factor: 0.471
  1 in total

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