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Last update 08 May 2025

HBA2

Last update 08 May 2025

Basic Info

Synonyms

Alpha-globin, HBA-T2, HBA1

+ [5]

Introduction

Involved in oxygen transport from the lung to the various peripheral tissues. Hemopressin acts as an antagonist peptide of the cannabinoid receptor CNR1 (PubMed:18077343). Hemopressin-binding efficiently blocks cannabinoid receptor CNR1 and subsequent signaling (PubMed:18077343).

Drugs associated with HBA2

HBA2 targeted Gene editing (Ruifeng)

Target

HBA2

Mechanism

HBA2 modulators

Active Org.

Guangzhou Ruifeng Biological Technology Co., Ltd.

Originator Org.

Guangzhou Ruifeng Biological Technology Co., Ltd.

Active Indication

Alpha-Thalassemia

Inactive Indication-

Drug Highest PhasePreclinical

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

100 Clinical Results associated with HBA2

100 Translational Medicine associated with HBA2

0 Patents (Medical) associated with HBA2

1,013

Literatures (Medical) associated with HBA2

04 Mar 2025·Hemoglobin

Unusual Causes of β Thalassemia Trait: Discovery of another Three Novel SUPT5H Variants

Article

Author: Koopmann, Tamara ; Harteveld, Cornelis L. ; Gammeren, Adriaan van ; Achour, Ahlem ; Nik Mohd Hasan, Nik Fatma Fairuz ; Baas, Frank ; van der Leeuw, Joep ; Stieber, Daniel ; Ceelie, Huib

Beta (β) thalassemia is an inherited disorder that occurs following mutations or deletions in the β globin gene. Rarely, it is caused by variants in genes coding for erythroid transcriptional factors or trans-acting factors. Here, we report three novel variants of SUPT5H revealed by next generation sequencing. This, gene has been progressively acknowledged as a mimicker of β thalassemia trait in two independent individuals and one family. These individuals have the same features, including hypochromic microcytic indices, increased Hb A₂ levels, without mutations in the β globin gene. The three novel SUPT5H variants identified in this study (c.1168_1169del, c.2688del and c.307+1G>A) are frameshift variants leading to a premature stop codon or an intronic variant predicted to alter the splice site consensus sequence by in silico software. All three variants are characterized as Loss-of-Function variants either by generating a truncated protein or haplo-insufficiency due to nonsense-mediated decay. These findings confirm the general observation that most variants in SUPT5H associated with a β thalassemia trait phenotype are Loss-of-Function variants. This gene should be considered as a potential target gene in the genetic diagnosis of any unsolved cases of increased HbA₂ and unexplained inconsistency of phenotype and genotype of β thalassemia intermedia.

04 Mar 2025·Hemoglobin

Molecular Characterization of Complex Thalassemia with Multiple Variants in β-Globin Gene Cluster and the Identification of a Novel Structural Rearrangement in γ-Globin Gene

Article

Author: Zhou, Jihui ; Liu, Yanqiu ; Huang, Ting ; Shao, Junhui ; Luo, Haiyan ; Fang, Yuan ; Ma, Pengpeng ; Zou, Yongyi ; Yang, Bicheng ; Xu, Yonghua ; Yang, Yan

Molecular characterization was performed for investigation of β-globin gene cluster in a pregnant Chinese female with mild microcytic hypochromic anemia accompanied with complicated hemoglobin fractions. Routine hematological parameters and hemoglobin analyses were conducted using an automated cell counter and capillary electrophoresis, separately. Long-read single molecule real time (SMRT) sequencing was employed to molecularly characterize this individual. Hematological indices showed mild microcytic hypochromic anemia, and hemoglobin analyses demonstrated normal HbA2 percentage of 2.3% and increased HbF value of 13.1% in this female. SMRT thalassemia genetic testing showed a heterozygous β⁺ mutation HBB:c0.316-197C > T (β^{IVS-II-654 (C>T)}) and heterozygous HBG2:c.-211C > T (-158Gγ (C > T)), which has independently been reported to result in elevated HbF levels. A variant HBD: c.-127T > C (-77 (T > C)) was also identified in the promoter region, which has been frequently reported to result in normal HbA2 levels in patients with β-thalassemia. All the three variants were further validated by Sanger sequencing. Moreover, SMRT analysis unraveled a novel duplicated structural variation of HBG1/HBG2 (^Gγ^Aγ/^{-158(C>T)GγGγGγAγ}), a rearrangement of four γ-globin genes including one entire HBG1 and three entire HBG2 in one chromosome. We herein first described a novel structural quadruplet γ-globin genes of HBG2 by SMRT and reported the molecular characterization of a complex thalassemia with variants involving HBG1/HBG2, HBD and HBB genes. Our work may facilitate genetic counseling and bring insight into future diagnosis of complex thalassemia.

04 Mar 2025·Hemoglobin

Prevalence and Molecular Characteristics of Hemoglobin Variants in Laibin City, Central Guangxi of Southern China

Article

Author: Yuan, De-Jian ; Chen, Li-Zhu ; Huang, Yuan-Yuan ; Qin, Xue-Chun ; Wei, Gui-Xi ; Zhong, Qing-Yan ; Li, Wei ; Ye, Li-Hua ; Wen, Hui-Ping

This study investigated hemoglobin (Hb) variant prevalence and molecular characteristics in Laibin City, Central Guangxi, China. Using capillary electrophoresis (CE), 33,958 individuals from six regions within Laibin area were screened, with hematological parameters analyzed via automated cell counters. Gap-PCR/RDB-PCR identified common α/β-thalassemia mutations, while Sanger sequencing characterized Hb variants. Single-molecule real-time (SMRT) sequencing was performed to identify breakpoints in a sample with a large duplication and to detect multiple mutations in another sample. Multiple ligation-dependent probe amplification (MLPA) was used for duplication validation. Among 231 Hb variant carriers (0.68% prevalence), 18 mutation types were identified: 7 α-chain, 6 β-chain, and 5 δ-chain variants. Hb New York was most frequent (30.3%, 70/231), followed by Hb E (27.3%, 63/231) and Hb Q-Thailand (20.8%, 48/231). Two novel variants-Hb Laibin (HBA2: c.44T>C) and Hb Anti-Lepore Laibin-were discovered, alongside China's first reported Hb Matsue-Oki case. In conclusion, we observed a high carrying rate of Hb variants in Laibin City. Our findings contribute to the increasing number and diverse heterogeneity of Hb variants in Central Guangxi, which should be useful for genetic counseling and the prevention of hemoglobinopathies. The flexible application of a diverse array of molecular detection techniques is essential to avoid missed diagnoses and achieve high diagnostic efficiency.

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HBA2

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