The Clinical and Laboratory Profiles of a Deletional α2-Globin Gene Polyadenylation Signal Sequence (AATAAA > AATA--) [HBA2:c.*93_*94delAA]: The Malaysian Experience

The Clinical and Laboratory Profiles of a Deletional α2-Globin Gene Polyadenylation Signal Sequence (AATAAA > AATA--) [HBA2:c.*93_*94delAA]: The Malaysian Experience

Poly A (AATAAA > AATA--) [HBA2:c.*93_*94delAA] is a rare α-variant reported in our population. It is caused by 2 bp deletion (--AA) in the α2 poly A sequence, leading to a significant α–thalassaemia phenotype. <b>Background/Objectives</b>: This study describes the haematological param...

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Bibliographic Details
Main Authors: Norafiza Mohd Yasin, Syahzuwan Hassan, Nur Aisyah Aziz, Faidatul Syazlin Abdul Hamid, Ezalia Esa, Ezzanie Suffya Zulkefli, Rohana Ghazali, Syirah Nazirah Tajuddin, Mohd Nazif Darawi, Yuslina Mat Yusoff, Cornelis L. Harteveld
Format: Article
Language:English
Published: MDPI AG 2025-05-01
Series:Diagnostics
Subjects:
non-deletional α-thalassaemia
polyadenylation mutation
AATA( > AA)
Hb H disease
Online Access:https://www.mdpi.com/2075-4418/15/10/1284
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