更新于：2024-11-01

Anemia, Dyserythropoietic, Congenital

先天性单纯红细胞再生障碍性贫血

更新于：2024-11-01

基本信息

别名

ANEMIA WITH MULTINUCLEATED ERYTHROBLASTS、ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE I、ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE II

+ [110]

简介

A familial disorder characterized by ANEMIA with multinuclear ERYTHROBLASTS, karyorrhexis, asynchrony of nuclear and cytoplasmic maturation, and various nuclear abnormalities of bone marrow erythrocyte precursors (ERYTHROID PRECURSOR CELLS). Type II is the most common of the 3 types; it is often referred to as HEMPAS, based on the Hereditary Erythroblast Multinuclearity with Positive Acidified Serum test.

关联

项与先天性单纯红细胞再生障碍性贫血相关的药物

Congenital Dyserythropoietic Anemia(CDA)(CorrGene Biotechnology)

靶点-

作用机制-

在研机构

无锡科金生物科技有限公司

原研机构

无锡科金生物科技有限公司

在研适应症

先天性单纯红细胞再生障碍性贫血

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

AP-CDAN1-FWP

靶点

CDAN1

作用机制

CDAN1 modulators [+1]

在研机构

Acuitas Therapeutics, Inc. [+1]

原研机构

Acuitas Therapeutics, Inc.

在研适应症

先天性单纯红细胞再生障碍性贫血

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

项与先天性单纯红细胞再生障碍性贫血相关的临床试验

EUCTR2020-005736-30-IT / Unknown status临床2期IIT

A phase II, multicenter, open label study to evaluate the efficacy and safety of Luspatercept (ACE-536) in adult patients with Congenital Dyserythropoietic Anemia type Il (CDA ll). - CDAII-LUSPATERCEPT

开始日期2023-07-17

申办/合作机构-

CTRI/2023/03/050299 / Not yet recruitingN/AIIT

Comparison of the effect of transfusion of packed red blood cells from two different age group male donors in maintaining a pre-transfusion haemoglobin level in thalassemic children

开始日期2023-03-15

申办/合作机构-

CTRI/2022/09/045910 / Not yet recruiting临床1期IIT

The Effect Of Sigru(Moringa Oleifera Lam.) Leaves And Bark Powder In Panduroga W.S.R. To Sickle Cell Anemia.(A Clinico Pathological Study) - SLBPSA

开始日期2022-10-01

申办/合作机构-

100 项与先天性单纯红细胞再生障碍性贫血相关的临床结果

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100 项与先天性单纯红细胞再生障碍性贫血相关的转化医学

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0 项与先天性单纯红细胞再生障碍性贫血相关的专利（医药）

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1,136

项与先天性单纯红细胞再生障碍性贫血相关的文献（医药）

2024-12-31·Hematology

Identification of a novel splice variant in SEC23B gene in a patient with concomitant presence of congenital dyserythropoietic anemia II and Gilbert’s syndrome

Article

作者: Nahm, Chung Hyun ; Kim, Su Jin ; Jang, Woori ; Ha, Dong Jun ; Moon, Yeonsook ; Lee, Ji-Eun ; Park, Jisun

BACKGROUNDCongenital dyserythropoietic anemia Ⅱ (CDA Ⅱ) is a rare inherited disorder of defective erythropoiesis caused by SEC23B gene mutation. CDA Ⅱ is often misdiagnosed as a more common type of clinically related anemia, or it remains undiagnosed due to phenotypic variability caused by the coexistence of inherited liver diseases, including Gilbert's syndrome (GS) and hereditary hemochromatosis.METHODSWe describe the case of a boy with genetically undetermined severe hemolytic anemia, hepatosplenomegaly, and gallstones whose diagnosis was achieved by targeted next generation sequencing.RESULTSMolecular analysis revealed a maternally inherited novel intronic variant and a paternally inherited missense variant, c.[994-3C > T];[1831C > T] in the SEC23B gene, confirming diagnosis of CDA Ⅱ. cDNA analysis verified that the splice acceptor site variant results in two mutant transcripts, one with an exon 9 skip and one in which exons 9 and 10 are deleted. SEC23B mRNA levels in the patient were lower than those in healthy controls. The patient was also homozygous for the UGT1A1*6 allele, consistent with GS.CONCLUSIONIdentification of the novel splice variant in this study further expands the spectrum of known SEC23B gene mutations. Molecular genetic approaches can lead to accurate diagnosis and management of CDA Ⅱ patients, particularly for those with GS coexisting.

2024-12-31·Hematology

Bernard–Soulier syndrome caused by two novel heterozygous GP1BA gene mutations: a case report and literature review

Review

作者: Ling, Jing ; Zhang, Senlin ; Cui, Kai ; Zhan, Shihong ; Wang, Wenyi ; Hu, Shaoyan ; Fan, Junjie ; Zheng, Jiajia

BACKGROUNDBernard-Soulier syndrome (BSS) is a rare inherited macrothrombocytopenia, usually autosomal recessive, which is characterized by prolonged bleeding, thrombocytopenia, and abnormally large platelets.METHODSFor more than 6 years, we misdiagnosed a patient with BSS without an obvious bleeding tendency as having idiopathic thrombocytopenia purpura (ITP), prior to obtaining a genetic analysis. On admission, routine hematology showed a platelet count of 30 × 10⁹/L and mean platelet volume (MPV) of 14.0 fL.RESULTSWhole-exome sequencing revealed two likely pathogenic heterozygous mutations (c.95_101del and c.1012del) in GP1BA. Flow cytometry analysis of platelet membrane glycoproteins indicated that the expression of GP1b was 0.28% of the normal level. Platelet aggregation tests indicated that platelet aggregation was inhibited by ristocetin- (1.7%), ADP- (14.5%), and arachidonic acid- (5.6%) induced platelet aggregation. A literature review identified reports on 53 mutations in the GP1BA gene in 253 patients, 29 mutations in the GP1BB gene in 90 patients, and 32 mutations in the GP9 gene in 114 patients.CONCLUSIONThis case report describes two novel gene mutation sites that have not been reported previously, enriching understanding of the GP1BA mutation spectrum.

2024-11-01·Pediatric Blood & Cancer

Comment on: Severe β‐thalassemia (Hb Zunyi) mimicking congenital dyserythropoietic anemia—The deceivingly normal mean corpuscular volume and hemoglobin electrophoresis in dominantly inherited β‐thalassemia: Hb Little Venice

Letter

作者: Lee, Anselm Chi‐wai ; Law, Hai Yang