Identification of two novel β-globin gene mutations HBB: exon3del, HBB: c.−81A>C
ABSTRACTBackground β-thalassemia is a common inherited hemolytic disorder caused by mutations in the HBB gene. Genetic analysis of 2 new beta-thalassemia patients with deletion mutations in the HBB gene and their family members.Methods Their clinical presentation and blood phenotypic tests were anal...
Main Authors: | YaXuan Cao, JianMing Luo |
---|---|
Format: | Article |
Language: | English |
Published: |
Taylor & Francis Group
2023-12-01
|
Series: | Hematology |
Subjects: | |
Online Access: | https://www.tandfonline.com/doi/10.1080/16078454.2023.2265723 |
Similar Items
-
Hb Knossos (HBB: c.82G > T), β-globin CD 5 (−CT) (HBB: c.17_18delCT) and δ-globin CD 59 (−a) (HBD: c.179delA) mutations in a Syrian patient with β-thalassemia intermedia
by: Faten Moassas, et al.
Published: (2019-02-01) -
A rare gene variation cap +1 (A>C) (HBB: c. −50A>C) associated with codon 5 (‐CT) (HBB: c.17_18delCT) mutation in Syrian family
by: Hossam Murad, et al.
Published: (2021-03-01) -
Molecular analysis of a large novel deletion causing α+-thalassemia
by: Jianlong Zhuang, et al.
Published: (2019-05-01) -
A compound heterozygous −29 A>G and IVS-I-1 G>A mutation of HBB gene leading to β-thalassemia intermedia in a Syrian patient: A case report
by: Hossam Murad, et al.
Published: (2019-01-01) -
Prenatal diagnosis of a rare β‐thalassemia gene -90 (C>T) (HBB: c.‐140 C>T) mutation associated with deletional Hb H disease (‐‐SEA/‐α4.2)
by: Hou Qian, et al.
Published: (2020-11-01)