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14 April 2026 : Case report  USA

Hemoglobin San Diego: A Case Report and Review of the Literature

Challenging differential diagnosis, Rare disease

Matthew L. Repp ABEF 1*, Brandon McMahon ABEF 1,2

DOI: 10.12659/AJCR.951364

Am J Case Rep 2026; 27:e951364

Table 2 Summary of hemoglobin San Diego cases in the literature including patient demographics, clinical presentation, laboratory findings, family history, and any interventions performed.

Author, year [ref]Sex, age (years)Clinical presentationEthnicity/ancestryLaboratory values (Hb g/dL; Hct%)Family historyInterventions
Nute et al, 1974 []6 Female, 37Headaches and dizzinessFilipinoHb: 18Hct: 52Six family members, including sister and childrenNone reported
Chanarin et al, 1975 []22 Male, 63Initially asymptomatic; later splenic hematoma, postoperative bleeding, DVT/PE, plethoric faciesNot reportedHb: 19.4Hct: Not reportedBrother had Hb San Diego; father presumed affected (premature death)None reported
Harkness et al, 1981 []23 Female, 79Ecchymosis, purpura while on warfarin and phenylbutazone, subcutaneous hemorrhages, mild headachesEnglish, ScottishHb: 20.4Hct: 64Father and paternal grandfather underwent blood removal by leechesNone reported
Rochette et al, 1984 []24 Male, 16None reportedTunisianHb: 18.3Hct: 54.2None reportedNone reported
Loukopoulos et al, 1986 []25 Male, 29Facial plethora, splenomegalyGreekHb: 19.1Hct: 70None reportedPhlebotomy during episodes of headache or dizziness
Coleman et al, 1993 []26 Female, 35None reportedIranianHb: 18.0Hct: Not reportedBrother and sister with unspecified erythrocytosisNone reported
Williamson et al, 1995 []26 Male, 30Colicky abdominal painWest IndianHb: 18.8Hct: 58No Hb San Diego in parents or sister; mother and sister had Hb S mutationPhlebotomy
Gerli et al, 2002 []27 Female, 57Transient respiratory distress, arrhythmias, mild facial plethoraItalianHb: 18.9Hct: 70None reportedNone reported
Keskin et al, 2017 []14 Female, 15Occasional headaches, fatigue, dizziness, nausea, chest painTurkishHb: 16.9Hct: 50.6Father and paternal grandmother had erythrocytosis requiring multiple phlebotomies; 2 aunts, 1 uncle, and 2 cousins had erythrocytosisNone reported
Boster et al, 2019 []28 Male, 18AsymptomaticWhite (Texas, USA)Hb: 17.8Hct: 52.1Mother and maternal grandmother had erythrocytosis requiring intermittent phlebotomyNone reported
Xiong and Chen, 2019 []15 Male, 43Intermittent headaches and dizzinessChineseNot reportedErythrocytosis in 6 family members across 3 generationsOccasional phlebotomies
Oo, 2020 []29 Male, 41Palmar plethoraHispanicHb: 18.4Hct: 56.3Brother with erythrocytosisNone reported
This caseMale, 29Splenomegaly (otherwise asymptomatic)White (Colorado, USA)Hb: 18.7Hct: 53.9None reportedNone reported
DVT – deep vein thrombosis; Hb – hemoglobin; Hct – hematocrit; Hb S – hemoglobin S; PE – pulmonary embolism.

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American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923