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How we diagnose and manage altered oxygen affinity hemoglobin variants
Author(s) -
Yudin Jovana,
Verhovsek Madeleine
Publication year - 2019
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.25425
Subject(s) - p50 , hemoglobin , oxygen–haemoglobin dissociation curve , oxygen , pathophysiology , hemoglobin variants , globin , medicine , chemistry , gene , computational biology , biology , biochemistry , organic chemistry , transcription factor
Altered oxygen affinity variant hemoglobins (Hbs) are caused by mutations of the globin genes. Changes in Hb oxygen affinity shift the oxygen dissociation curve, and can be identified by abnormal p50 measurements of patient red blood cells. Variants are categorized as either low oxygen affinity (high p50) or high oxygen affinity (low p50). Accurate diagnosis requires recognition of typical clinical and laboratory findings. In this case‐based review, we present two patients with altered oxygen affinity variants, illustrating barriers to prompt and accurate diagnosis, and issues in management. We then review pathophysiology, diagnostic tests, clinical features, and management strategies.