Cyanosis, hemolysis, decreased HbA1c and abnormal co-oximetry in a patient with hemoglobin M Saskatoon [HBB:c.190C > T p.His64Tyr].


Journal

Hematology (Amsterdam, Netherlands)
ISSN: 1607-8454
Titre abrégé: Hematology
Pays: England
ID NLM: 9708388

Informations de publication

Date de publication:
Dec 2021
Historique:
entrez: 18 11 2021
pubmed: 19 11 2021
medline: 15 12 2021
Statut: ppublish

Résumé

We describe a first Dutch case of Hb M Saskatoon (HBB:c.190C > T p.His64Tyr) in a 47-year-old female Dutch patient who presented with cyanosis, hemolysis, and abnormal co-oximetry. A mean corpuscular volume (MCV) of 105 fL caused by reticulocytosis (160 × 10

Identifiants

pubmed: 34789072
doi: 10.1080/16078454.2021.1999048
doi:

Substances chimiques

Biomarkers 0
Glycated Hemoglobin A 0
Hemoglobins, Abnormal 0
hemoglobin Saskatoon 69670-54-8

Types de publication

Case Reports Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

914-918

Auteurs

Eva-Leonne Göttgens (EL)

Result Laboratory for Clinical Chemistry and Hematology, Amphia Hospital, Breda, The Netherlands.

Kristian Baks (K)

Department of Internal Medicine, Amphia Hospital, Breda, The Netherlands.

Cornelis L Harteveld (CL)

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

Kristel Goossens (K)

Department of Internal Medicine, Amphia Hospital, Breda, The Netherlands.

Adriaan J van Gammeren (AJ)

Result Laboratory for Clinical Chemistry and Hematology, Amphia Hospital, Breda, The Netherlands.

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Classifications MeSH