更新于：2024-11-01

HBA2

更新于：2024-11-01

基本信息

别名

Alpha-globin、HBA-T2、HBA1

+ [5]

简介

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).

关联

项与 HBA2 相关的药物

HBA2 targeted Gene editing (Ruifeng)

HBA2靶向基因编辑(瑞风)

靶点

HBA2

作用机制

HBA2 modulators

在研机构

广州瑞风生物科技有限公司初创企业

原研机构

广州瑞风生物科技有限公司初创企业

在研适应症

α地中海贫血

非在研适应症-

最高研发阶段临床前

首次获批国家/地区-

首次获批日期1800-01-20

100 项与 HBA2 相关的临床结果

登录后查看更多信息

100 项与 HBA2 相关的转化医学

登录后查看更多信息

0 项与 HBA2 相关的专利（医药）

登录后查看更多信息

995

项与 HBA2 相关的文献（医药）

2024-12-31·Hematology

Genotype and phenotype analysis of α-thalassemia fusion gene in southern China

Article

作者: Huang, Min ; Ju, Ai-Ping ; Ge, Yi-Yuan ; Yang, Li-Ye ; Li, Lie-Jun ; Lai, Yan-Quan ; Xie, Long-Xu ; Lu, Min

OBJECTIVEThe α-globin fusion gene between the HBA2 and HBAP1 genes, is clinically important in thalassemia screening because this fusion gene can cause severe hemoglobin (Hb) H disease when combined with α⁰ -thalassemia (α⁰ -thal). In this study, we evaluate the red blood cell parameters of α-thalassemia fusion gene in southern China.METHODStudy samples suspected of α-thalassemia fusion gene were collected and confirmed by PCR-sequencing from one medical lab center in southern China. Their genotypes and phenotypes were analyzed.RESULTSA total of 266 cases of α-thalassemia fusion gene were confirmed in our lab from 2017 to 2023, most of them were from Hainan province (169 cases) and Huadu district of Guangzhou (21 cases), the nationality of 143 cases from Hainan was identified, with 71.3% (102/143) being from the Li minority. The Hb, MCV, MCH for αα/(αα)^fusion in adult males were 143.5±11.83g/L, 81.51±4.39 fl, and 26.26±1.29 pg, respectively; and in females, they were 126.69±12.89 g/L, 80.10±4.05 fl, 25.8±2.04 pg, respectively. All 12 cases (αα) ^Fusion/ --^SEA showed anemia with decreased Hb, MCV and MCH.CONCLUSIONThe carriers of α-globin fusion gene heterozygotes are clinically silent and exhibit an α⁺ phenotype. Individuals with (αα)^Fusion/^--SEA show apparent anemia. This α-globin fusion gene is relatively common in southern China, specifically among the Li minority of Hainan province. Therefore, it should be taken into account for genetic counseling purposes.

2024-12-31·Hematology

Hb H disease associated with compound heterozygosity for -- ^SEA deletion and a novel alpha globin chain variant ( HBA2 :c.175C>A) on the distal histidine in a Chinese family

Article

作者: Sun, Manna ; Xinghe, Wang ; Yan, Tizhen ; Liu, Shuangai ; Zhao, Ying ; Dai, Yunshi ; Lou, Jiwu

OBJECTIVESIn clinical practice, the majority of α-thalassaemia cases arise from deletions of the α-globin genes. However, a subset of cases is attributed to rare haemoglobin variants, which can manifest with borderline or normal screening results, potentially leading to missed diagnoses in clinical practice.METHODSBlood samples were collected from family members and underwent haematological, DNA and RNA analysis.RESULTSThe five-month-old proband presented a haematological phenotype consistent with Hb H disease. The mother's haematology profile was consistent with an α-thalassaemia carrier, while the father exhibited a borderline reduction in MCV and MCH. MALDI-TOF identified an abnormal α-chain in the proband. DNA analysis revealed a novel α-globin variant (HBA2:c.175C>A, α58His>Asn, Hb DG-Nancheng) affecting the distal histidine in the family. The father and the mother had α-genotype of --^SEA/αα and α^DG-Nanchengα/αα, respectively; while the proband inherited both mutant alleles (--^SEA/α^DG-Nanchengα). Sequencing of cDNA from HBA2 gene identified an equal ratio of normal and mutant alleles.CONCLUSIONThis rare case highlighted the importance of identifying rare haemoglobin variant during prenatal screening. The clinical and genetic data provides useful information on the pathogenicity of this variant and further insight into the role of distal histidine residue of α-globin.

2024-10-10·Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

[Analysis of five Chinese individuals with rare thalassemia mutation HBB: c.93-21G＞A].

Article

作者: Liu, Lili ; Ma, Xiaomin ; Yu, Xiaohua ; Liao, Yuwei ; Ge, Yiyuan ; Huang, Yuchan ; Cao, Yanbin ; Yang, Liye ; Lai, Bairu ; Zeng, Yanqing ; Liang, Jianlian ; Zeng, Guangkuan

OBJETIVETo explore the hematological phenotype and genotypic characteristics of five Chinese individuals with a rare thalassemia mutation HBB: c.93-21G＞A.METHODSA retrospective study was carried out on five individuals identified by the People's Hospital of Yangjiang and Guangzhou Hybribio Co., Ltd. from May 2018 to September 2022. Routine blood test and hemoglobin electrophoresis were performed, and the genotypes of five subjects were determined by using PCR combined with reverse dot blotting (RDB), nested PCR, Gap-PCR and Sanger sequencing. This study was approved by the People's Hospital of Yangjiang (Ethics No. 20240001).RESULTSAmong the five individuals, hematological data of one was unavailable, and the remaining four had presented with microcytosis and hypochromia. The results of hemoglobin electrophoresis indicated that all of them had a HbA2 level of ≥4.7%. Genetic analysis showed that one case had harbored compound heterozygous mutations of ααα^anti3.7 triplet and HBB: c.93-21G＞A, one had compound heterozygous mutations of -α^3.7 and HBB: c.93-21G＞A, whilst the remaining three were heterozygous for the HBB: c.93-21G＞A mutation.CONCLUSIONThe hematological phenotype of β-thalassemia carriers (HBB: c.93-21G＞A) is similar to that of other β⁺ thalassemia heterozygotes with mild β-thalassemia characteristics.