A stepwise haematological screening and whole‐exome sequencing reveal multiple mutations from <scp> <i>SUPT5H</i> </scp> causing an elevation of Hb <scp> A <sub>2</sub> </scp> from a cohort of 47336 individuals-Reference-Cited by-同舟云学术

A stepwise haematological screening and whole‐exome sequencing reveal multiple mutations from SUPT5H causing an elevation of Hb A ₂ from a cohort of 47336 individuals

Published:2022-08-24 Issue:1 Volume:45 Page:90-95
ISSN:1751-5521
Container-title:International Journal of Laboratory Hematology
language:en
Short-container-title:Int J Lab Hematology

Author:

Lou Jiwu¹^ORCID,Ye Yuhua²³⁴,Sun Manna⁵,Zhao Ying¹,Fu Youqing¹,Liu Yanhui¹

Affiliation:

1. Prenatal Diagnostic Center Dongguan Maternal and Children Health Hospital Dongguan Guangdong People's Republic of China

2. Department of Medical Genetics, School of Basic Medical Sciences Southern Medical University Guangzhou Guangdong People's Republic of China

3. Guangdong Genetics Testing Engineering Research Center Guangzhou Guangdong People's Republic of China

4. Innovation Center for Diagnostics and Treatment of Thaelassemia Nanfang Hospital, Southern Medical University Guangzhou Guangdong People's Republic of China

5. Department of Obstetrics & Gynecology Dongguan Maternal and Children Hospital Dongguan Guangdong People's Republic of China

Publisher

Wiley

Subject

Biochemistry (medical),Clinical Biochemistry,Hematology,General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ijlh.13959

Reference20 articles.

1. HbA2: biology, clinical relevance and a possible target for ameliorating sickle cell disease

2. Analysis of the Genotypes in a Chinese Population with Increased Hb A2and Low Hematological Indices

3. Delineation of the molecular basis of borderline hemoglobin A2 in Chinese individuals

4. GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy

5. GATA1 mutations in red cell disorders

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