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Characterization of hemoglobin Hotel Dieu in a Puerto Rican adolescent
C L Cadilla1, C R López, S García-Castiñeiras
1Department of Biochemistry, University of Puerto Rico School of Medicine, San Juan.
Journal of Pediatric Hematology/Oncology
|October 27, 1998
Summary
Hemoglobin Hotel Dieu (HbHD), a high-oxygen affinity variant, was identified in a Hispanic adolescent with erythrocytosis. This case confirms HbHD in a new ethnic group, linking the variant to elevated hemoglobin levels.
Area of Science:
- Hematology
- Genetics
Background:
- Hemoglobin Hotel Dieu (HbHD) is a rare, high-oxygen affinity hemoglobin variant.
- First identified in a white individual, its presence in other ethnic groups was previously unreported.
Observation:
- A 13-year-old Hispanic male presented with erythrocytosis (Hb up to 19.1 g/dL) and symptoms including chest pain and headaches.
- Protein and DNA analyses were performed, including electrophoresis, HPLC, PCR, and DNA sequencing.
Findings:
- The patient was found to be heterozygous for HbHD, specifically a glycine substitution at the beta 99 position (GAT to GGT).
- Genetic analysis confirmed the patient's biological relationship to his parents, ruling out non-paternity.
Implications:
- This study reports the first case of HbHD in a Hispanic patient, expanding the known ethnic distribution of this variant.
- The findings confirm that HbHD is the cause of erythrocytosis in this adolescent, highlighting the importance of genetic analysis in diagnosing unexplained high hemoglobin levels.
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