Alpha-Thalassemia Caused by ααIVSI-1(AGGT> AGAT) (HBA1: c.95 + 1G > A) Mutation and its Combinations with Other Forms of Thalassemia or Hemoglobinopathy in Northern Thailand.
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引用次数: 0
Abstract
The ααIVSI-1(AGGT> AGAT) mutation is typically disregarded during routine thalassemia testing because of its mild or absent pathology in heterozygous individuals as well as its interactions with modulators that can result in variable phenotypes, particularly in β-thalassemia (β-thal) and hemoglobin E (HbE) carriers. This study was performed to analyze the ααIVSI-1(AGGT> AGAT) mutation in Northern Thailand using targeted next-generation sequencing (NGS). Hb analysis was performed by HPLC and/or CE methods. The α-thal-1 --SEA, --Thai, and --Chiang Rai type deletions were detected by real-time PCR with high-resolution melting analysis, and the α-thal-2 (-α3.7 and -α4.2) deletion was detected by conventional gap-PCR. Thalassemia genotypes were further investigated using an NGS panel targeting the coding regions of the HBA1, HBA2, and HBB genes. The ααIVSI-1(AGGT> AGAT) mutation was misdiagnosed by routine thalassemia diagnostic methods. NGS results showed that 7 (3 Burmese and 4 Thai originations) of 1107 (0.63%) blood samples were heterozygous for the ααIVSI-1(AGGT> AGAT) mutation, which appeared in 5 different genotypes. Clinical and hematological features varied with their combination forms. The targeted NGS analysis utilized in this study is a promising genetic testing method for the identification of uncommon globin gene mutations. It shows particular promise in thalassemia screening and genetic counseling.
期刊介绍:
Indian Journal of Hematology and Blood Transfusion is a medium for propagating and exchanging ideas within the medical community. It publishes peer-reviewed articles on a variety of aspects of clinical hematology, laboratory hematology and hemato-oncology. The journal exists to encourage scientific investigation in the study of blood in health and in disease; to promote and foster the exchange and diffusion of knowledge relating to blood and blood-forming tissues; and to provide a forum for discussion of hematological subjects on a national scale.
The Journal is the official publication of The Indian Society of Hematology & Blood Transfusion.