Familial erythrocytosis and phenotypic heterogeneity associated with different defects in alpha globin genes: a significant new case of Hb Wroclaw (α88(F9) Ala>Glu; HBA1: c.266C>A)

Clin Chem Lab Med. 2025 Oct 13;64(3):e57-e61. doi: 10.1515/cclm-2025-1118. Print 2026 Feb 24.

Affiliations

¹ SOD Ematologia, AZIENDA Ospedaliera Universitaria Careggi, Florence, Italy.
² SOD Laboratorio Generale, AZIENDA Ospedaliera Universitaria Careggi, Firenze, Italy.
³ Laboratorio Genetica Umana, IRCCS Istituto Giannina Gaslini, Research Institute and Children Hospital, Genova, Italy.
⁴ Sebia Italia srl, Bagno a Ripoli, Florence, Italy.
⁵ Formerly, Laboratorio Genetica Umana, Ospedali Galliera, Genova, Italy.

PMID: 41622866
DOI: 10.1515/cclm-2025-1118

No abstract available

Keywords: O2 affinity; erythrocytosis; α-thalassemia; α-variant.

Publication types

Letter