Hereditary anemia caused by multilocus inheritance of PIEZO1, SLC4A1 and ABCB6 mutations: a diagnostic and therapeutic challenge

Barbara Eleni Rosato; Seth L Alper; Giovanna Tomaiuolo; Roberta Russo; Achille Iolascon; Immacolata Andolfo

doi:10.3324/haematol.2022.280799

Hereditary anemia caused by multilocus inheritance of PIEZO1, SLC4A1 and ABCB6 mutations: a diagnostic and therapeutic challenge

Haematologica. 2022 Sep 1;107(9):2280-2284. doi: 10.3324/haematol.2022.280799.

Authors

Barbara Eleni Rosato¹, Seth L Alper², Giovanna Tomaiuolo³, Roberta Russo⁴, Achille Iolascon¹, Immacolata Andolfo⁵

Affiliations

¹ Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli 'Federico II', Napoli, Italy; CEINGE Biotecnologie Avanzate, Napoli.
² Renal Division and Vascular Biology Research Center, Beth Israel Deaconess Medical Center; and Department of Medicine, Harvard Medical School, Boston, Massachusetts.
³ CEINGE Biotecnologie Avanzate, Napoli, Italy; Dipartimento di Ingegneria Chimica, dei Materiali e della Produzione Industriale, University of Naples Federico, 80125 Naples.
⁴ Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli 'Federico II', Napoli, Italy; CEINGE Biotecnologie Avanzate, Napoli. roberta.russo@unina.it.
⁵ Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli 'Federico II', Napoli, Italy; CEINGE Biotecnologie Avanzate, Napoli. immacolata.andolfo@unina.it.

No abstract available

MeSH terms

ATP-Binding Cassette Transporters
Anemia, Hemolytic, Congenital* / diagnosis
Anemia, Hemolytic, Congenital* / genetics
Anion Exchange Protein 1, Erythrocyte
Female
Humans
Hydrops Fetalis / diagnosis
Hydrops Fetalis / genetics
Ion Channels / genetics
Mutation

Substances

ABCB6 protein, human
ATP-Binding Cassette Transporters
Anion Exchange Protein 1, Erythrocyte
Ion Channels
PIEZO1 protein, human
SLC4A1 protein, human

Grants and funding

Funding: This research was funded by an EHA Junior Research Grant to IA (grant number: 3978026), and by Bando Star Linea 1 - Junior Principal Investigator Grants - COINOR, Università degli Studi di Napoli ‘Federico II’ to RR.