Homozygosity for the hyperunstable hemoglobin variant Hb Agrinio (HBA2:c.89T>C) leads to severe antenatal anemia: Eight new cases in three families
Am J Hematol
.
2022 Nov;97(11):E393-E395.
doi: 10.1002/ajh.26687.
Epub 2022 Sep 2.
Authors
Sarah Szepetowski
1
,
Claire Berger
2
,
Philippe Joly
3
,
Sandrine Baron-Joly
4
,
Yoann Huguenin
5
,
Aurélie Cantais
6
,
Sophie Brun
7
,
Cécile Ged
8
,
Catherine Badens
9
,
Isabelle Thuret
1
,
Muriel Giansily-Blaizot
10
,
Serge Pissard
11
,
Patricia Aguilar-Martinez
10
Affiliations
1
Pediatric Onco-Hematology Department, Reference Center on Rare Red Cell Disorders, La Timone Children's Hospital, APHM, Marseille, France.
2
Pediatric Onco-Hematology Department, Saint-Etienne University Hospital, Saint-Etienne, France.
3
Biology Center "Biochimie des pathologies érythrocytaires", Lyon Est Hospital Group, Bron, France.
4
Department of Pediatrics, Nîmes University Hospital, Nîmes, France.
5
Pediatric Onco-Hematology Department, Bordeaux University Hospital, Bordeaux, France.
6
Neonatal Pediatric Care unit, Saint-Etienne University Hospital, Saint-Etienne, France.
7
Department of Hematological biology, Nîmes University Hospital, Nîmes, France.
8
Biochemistry Department, Bordeaux University Hospital, Bordeaux, France.
9
INSERM, Marseille Medical Genetics, Aix Marseille University, Marseille, France.
10
Department of Hematological biology, Reference Center on Rare Red Cell Disorders, Montpellier University Hospital, Montpellier, France.
11
Molecular Genetic Laboratory, Henri Mondor University Hospital, Créteil, France.
PMID:
36052950
DOI:
10.1002/ajh.26687
No abstract available
Publication types
Case Reports
Letter
MeSH terms
Anemia* / genetics
Female
Hemoglobins, Abnormal* / genetics
Homozygote
Humans
Pregnancy
alpha-Thalassemia*
Substances
Hemoglobins, Abnormal
hemoglobin Agrinio