Hb Heathrow [β103(G5)Phe→Leu], a First Report in an Asian Patient with Erythrocytosis.

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.

• Authors: Sang Yong Shin, Hyun Young Kim, Hee Jin Kim, Hoon Gu Kim
• Journal: Yonsei medical journal (Yonsei Med J) Vol. 58 Issue 3 Pg. 665-667 (May 2017) ISSN: 1976-2437 [Electronic] Korea (South)
• PMID: 28332377 (Publication Type: Case Reports)
• Copyright: © Copyright: Yonsei University College of Medicine 2017.

Chemical References

• Hemoglobins, Abnormal
• hemoglobin Heathrow
• JAK2 protein, human
• Janus Kinase 2
• Oxygen

Topics

• Adult
• Biopsy
• Bone Marrow (pathology)
• DNA Mutational Analysis
• Exons (genetics)
• Frameshift Mutation
• Hemoglobins, Abnormal (genetics, isolation & purification, metabolism)
• Humans
• Janus Kinase 2
• Male
• Mutation
• Oxygen (metabolism)
• Polycythemia (blood, genetics)