Abstract
The β-thalassemia (thal) minor phenotypes with normal Hb A2 levels and decreased MCV and MCH values are relatively rare β-thal traits. Here, we describe a family with normal Hb A2 and decreased MCV and MCH levels. Amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) revealed the IVS-II-1 (G→A) mutation in the β-globin gene of the proband and her father. Direct sequencing of the δ-globin gene of the proband and her father also revealed a previously reported variant called Hb A2-Troodos [δ116(G18)Arg→Cys] [in cis with the IVS-II-1 (G→A) β0-thal mutation]. This is the first case report of Hb A2-Troodos in association with the β0 IVS-II-1 mutation. Reduced Hb A2 expression by a concomitant Hb A2 β-thal in cis or trans, may cause problems in carrier diagnostics, and eventually in genetic counseling and prenatal diagnosis when insufficient molecular analyses are performed.
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
