Case Report: A rare form of congenital erythrocytosis due to SLC30A10 biallelic variants—differential diagnosis and recommendation for biochemical and genetic screening

• Rosalinda Giannini,
• Emanuele Agolini,
• Giuseppe Palumbo,
• Giuseppe Palumbo,
• Antonio Novelli,
• Giacomo Garone,
• Giacomo Garone,
• Melissa Grasso,
• Giovanna Stefania Colafati,
• Marta Matraxia,
• Eleonora Piccirilli,
• Annalisa Deodati,
• Annalisa Deodati,
• Giulia Ceglie,
• Giulia Ceglie

Affiliations

Rosalinda Giannini

Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome, Italy

Emanuele Agolini

Laboratory of Medical Genetics, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy

Giuseppe Palumbo

Department of Pediatric Hematology and Oncology, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy

Giuseppe Palumbo

Department of Systems Medicine, University of Rome Tor Vergata, Rome, Italy

Antonio Novelli

Laboratory of Medical Genetics, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy

Giacomo Garone

Clinical and Experimental Neurology, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy

Giacomo Garone

Department of Neuroscience, Mental Health and Sensory Organs, Faculty of Medicine and Psychology, Sapienza University of Rome, Rome, Italy

Melissa Grasso

Neurological and Neurosurgical Diseases Research Unit, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy

Giovanna Stefania Colafati

Imaging Department, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy

Marta Matraxia

Laboratory of Medical Genetics, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy

Eleonora Piccirilli

Imaging Department, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy

Annalisa Deodati

Department of Systems Medicine, University of Rome Tor Vergata, Rome, Italy

Annalisa Deodati

Endocrinology and Diabetes Unit, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy

Giulia Ceglie

Department of Pediatric Hematology and Oncology, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy

Giulia Ceglie

0PhD Program in Immunology, Molecular Medicine and Applied Biotechnology, University of Rome Tor Vergata, Rome, Italy