Identification of double heterozygous -alpha(4.2I)/-alpha(4.2II) using third-generation sequencing

Article Medical Laboratory Technology

Identification of a novel 107 kb deletion in the alpha-globin gene cluster using third-generation sequencing

Youqiong Li et al.

Summary: A novel 107 kb deletion causing alpha-thalassemia was discovered using third-generation sequencing (TGS) after other methods failed. The TGS was confirmed by Gap-PCR and Sanger sequencing. This study highlights the importance of TGS as a reliable tool in identifying rare or potential deletions in thalassemia.

CLINICAL BIOCHEMISTRY (2023)

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Article Oncology

Molecular Basis and Genetic Modifiers of Thalassemia

Nicolo Tesio et al.

HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA (2023)

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Article Hematology

Hb Q-Thailand heterozygosity unlinked with the (-a4.2/) a+-thalassemia deletion allele identified by long-read SMRT sequencing: hematological and molecular analyses

Danqing Qin et al.

Summary: Two cases of Hb Q-Thailand heterozygosity unlinked with the (-alpha(4.2)/) alpha(+)-thalassemia deletion allele were identified in southern China using long-read SMRT sequencing. The hematological and molecular features, as well as diagnostic aspects of this rare manifestation, were reported.

HEMATOLOGY (2023)

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Article Genetics & Heredity

Detection of rare thalassemia mutations using long-read single-molecule real-time sequencing

Fan Jiang et al.

Summary: In this study, we utilized single-molecule real-time (SMRT) sequencing to uncover rare thalassemia mutations in nine patients and their family members. The results demonstrate the importance of SMRT sequencing in thalassemia screening and diagnosis, particularly for detecting rare mutations.

GENE (2022)

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Article Hematology

The -α3.7III subtype of α+-thalassemia was identified in China

Xiuqin Bao et al.

Summary: The -alpha(3.7 III) subtype was identified for the first time in China, completing the identification of all -alpha(3.7) subtypes in the Chinese population. Therefore, attention should be given to the -alpha(3.7 III) subtype in clinical prenatal diagnosis, as commonly used methods like gap-PCR may lead to misdiagnosis or missed diagnosis.

HEMATOLOGY (2022)

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Article Medical Laboratory Technology