Hb Heathrow [β103(G5)Phe→Leu], a First Report in an Asian Patient with Erythrocytosis.
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.
Department of Laboratory Medicine, Gyeongsang National University School of Medicine, Jinju, Korea.
Sang Yong
SY
Shin
Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Hyun Young
HY
Kim
Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. heejinkim@skku.edu.
Hee Jin
HJ
Kim
Department of Internal Medicine, Gyeongsang National University School of Medicine, Jinju, Korea. sharpkhg@paran.com.
Hoon Gu
HG
Kim
D000328:Adult; D001706:Biopsy; D001853:Bone Marrow / Q000473:pathology; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D016368:Frameshift Mutation; D006455:Hemoglobins, Abnormal / Q000235:genetics* / Q000302:isolation & purification / Q000378:metabolism; D006801:Humans; D053614:Janus Kinase 2; D008297:Male; D009154:Mutation; D010100:Oxygen / Q000378:metabolism; D011086:Polycythemia / Q000097:blood / Q000235:genetics*
D006455:Hemoglobins, Abnormal; C071127:hemoglobin Heathrow; C507924:JAK2 protein, human; D053614:Janus Kinase 2; D010100:Oxygen
Hb heathrow; Hemoglobin variant; erythrocytosis