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Homozygosity for the hyperunstable hemoglobin variant Hb Agrinio (HBA2:c.89T>C) leads to severe antenatal anemia: Eight new cases in three families.

作者信息

Szepetowski Sarah, Berger Claire, Joly Philippe, Baron-Joly Sandrine, Huguenin Yoann, Cantais Aurélie, Brun Sophie, Ged Cécile, Badens Catherine, Thuret Isabelle, Giansily-Blaizot Muriel, Pissard Serge, Aguilar-Martinez Patricia

机构信息

Pediatric Onco-Hematology Department, Reference Center on Rare Red Cell Disorders, La Timone Children's Hospital, APHM, Marseille, France.

Pediatric Onco-Hematology Department, Saint-Etienne University Hospital, Saint-Etienne, France.

出版信息

Am J Hematol. 2022 Nov;97(11):E393-E395. doi: 10.1002/ajh.26687. Epub 2022 Sep 2.

DOI:10.1002/ajh.26687
PMID:36052950
Abstract
摘要

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引用本文的文献

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Concomitant Presence of Hb Agrinio and - -Med Deletion in a Greek Male Patient with Hemoglobinopathy H: More Severe Phenotype and Literature Review.一名患有血红蛋白病H的希腊男性患者同时存在阿格里尼奥血红蛋白和——地中海缺失：更严重的表型及文献综述
Hematol Rep. 2023 Aug 8;15(3):483-490. doi: 10.3390/hematolrep15030050.