Last update 01 Nov 2024

Anemia, Dyserythropoietic, Congenital

Last update 01 Nov 2024

Basic Info

Synonyms

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

+ [110]

Introduction

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.

Drugs associated with Anemia, Dyserythropoietic, Congenital

Congenital Dyserythropoietic Anemia(CDA)(CorrGene Biotechnology)

Target-

Mechanism-

Active Org.

Wuxi Kejin Biotechnology Co., Ltd.

Originator Org.

Wuxi Kejin Biotechnology Co., Ltd.

Active Indication

Anemia, Dyserythropoietic, Congenital

Inactive Indication-

Drug Highest PhasePreclinical

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

AP-CDAN1-FWP

Target

CDAN1

Mechanism

CDAN1 modulators [+1]

Active Org.

Acuitas Therapeutics, Inc. [+1]

Originator Org.

Acuitas Therapeutics, Inc.

Active Indication

Anemia, Dyserythropoietic, Congenital

Inactive Indication-

Drug Highest PhasePreclinical

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

Clinical Trials associated with Anemia, Dyserythropoietic, Congenital

EUCTR2020-005736-30-IT / Unknown statusPhase 2IIT

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

Start Date17 Jul 2023

Sponsor / Collaborator-

CTRI/2023/03/050299 / Not yet recruitingNot ApplicableIIT

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

Start Date15 Mar 2023

Sponsor / Collaborator-

CTRI/2022/09/045910 / Not yet recruitingPhase 1IIT

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

Start Date01 Oct 2022

Sponsor / Collaborator-

100 Clinical Results associated with Anemia, Dyserythropoietic, Congenital

100 Translational Medicine associated with Anemia, Dyserythropoietic, Congenital

0 Patents (Medical) associated with Anemia, Dyserythropoietic, Congenital

1,136

Literatures (Medical) associated with Anemia, Dyserythropoietic, Congenital

31 Dec 2024·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

Author: 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.

31 Dec 2024·Hematology

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

Review

Author: 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.

01 Nov 2024·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

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

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Anemia, Dyserythropoietic, Congenital

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