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How we diagnose and manage altered oxygen affinity hemoglobin variants
Jovana Yudin1, Madeleine Verhovsek2,3,4
1Division of Hematology, Department of Medicine, University of Toronto, Toronto, Ontario, Canada.
American Journal of Hematology
|January 29, 2019
Summary
Altered hemoglobin (Hb) variants affect oxygen transport due to globin gene mutations. Diagnosis requires recognizing clinical and lab findings for effective patient management.
Area of Science:
- Biochemistry
- Genetics
- Hematology
Background:
- Hemoglobin (Hb) variants arise from globin gene mutations, altering oxygen affinity.
- Altered oxygen affinity shifts the oxygen dissociation curve, detectable via abnormal p50 measurements.
- Variants are classified as low oxygen affinity (high p50) or high oxygen affinity (low p50).
Observation:
- This case-based review highlights diagnostic and management challenges in two patients with altered oxygen affinity variants.
- Diagnostic delays and management issues were observed, underscoring the need for improved recognition.
- The review details barriers to prompt and accurate diagnosis in clinical practice.
Findings:
- Altered hemoglobin oxygen affinity impacts red blood cell oxygen release.
- Abnormal p50 measurements are key indicators of these variants.
- Case studies illustrate the complexities in identifying and managing these conditions.
Implications:
- Accurate diagnosis of altered oxygen affinity hemoglobins relies on recognizing specific clinical and laboratory findings.
- Understanding pathophysiology, diagnostic tests, clinical features, and management strategies is crucial.
- Improved diagnostic approaches and management protocols are needed for patients with these rare Hb variants.
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