Hb Heathrow β103(G5)Phe→Leu, a First Report in an Asian Patient with Erythrocytosis.
10.3349/ymj.2017.58.3.665
- Author:
Sang Yong SHIN
1
;
Hyun Young KIM
;
Hee Jin KIM
;
Hoon Gu KIM
Author Information
1. Department of Laboratory Medicine, Gyeongsang National University School of Medicine, Jinju, Korea.
- Publication Type:Case Report
- Keywords:
Hemoglobin variant;
Hb heathrow;
erythrocytosis
- MeSH:
Adult;
Asian Continental Ancestry Group*;
Biopsy;
Bone Marrow;
Exons;
Hematocrit;
Humans;
Leukocyte Count;
Oxygen;
Platelet Count;
Polycythemia*;
Reticulocyte Count
- From:Yonsei Medical Journal
2017;58(3):665-667
- CountryRepublic of Korea
- Language:English
-
Abstract:
Congenital erythrocytosis (CE) is a rare and heterogeneous disease. The high oxygen affinity hemoglobin (Hb) variants are the most common cause of CE. Herein, we report a Korean patient with isolated erythrocytosis. A 25-year-old man was referred to our hospital for evaluation of high Hb level (Hb 20.4 g/dL, hematocrit 58%, reticulocyte count 2.90%, white blood cell count 6.83×10⁹/L, and platelet count 195×10⁹/L). Bone marrow biopsy revealed normocellular marrow without myeloproliferative features. JAK2 (V617F, exon 12), CALR (exon 9), and MPL W515K/L mutations were not detected. P₅₀ (partial pressure at which Hb is half saturated with oxygen), which is an indicator of left-shift of oxygen dissociation curve (high oxygen affinity state), was 14.3 mm Hg (reference value 22.6–29.4 mm Hg). He was suspected to have CE. Mutation analysis of the HBB gene revealed the known Hb variant, Hb Heathrow [β103(G5)Phe→Leu]. This is the first report of Hb Heathrow in Asian.
