Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Yonsei medical journal - 1 May 2017

Shin Sang Yong, Kim Hyun Young, Kim Hee Jin, Kim Hoon Gu

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Biopsy
Share to Bone Marrow
Share to Exons

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Frameshift Mutation

Share to Hemoglobins, Abnormal

Share to Janus Kinase 2

Share to Oxygen

Share to Polycythemia

Source

Open in PubMed Open full text

Identifiers

PMID: 28332377
DOI: 10.3349/ymj.2017.58.3.665
PMCID: PMC5368157

Genes

CALR
HBB
JAK2
MPL

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Hb Heathrow [β103(G5)Phe→Leu], a First Report in an Asian Patient with Erythrocytosis.PMID 28332377Read ↗

Erythrocytosis: genes and pathways involved in disease development.Semantic proximity Read ↗

Clinical Characteristics of Pediatric Patients with Congenital Erythrocytosis: A Single Center StudySemantic proximity Read ↗

Diagnostic approach to hemoglobins with high oxygen affinity: experience from France and Belgium and review of the literature.Semantic proximity Read ↗

Congenital erythrocytosis.Semantic proximity Read ↗

Genotype–phenotype correlation of hereditary erythrocytosis mutations, a single center experienceSemantic proximity Read ↗

Molecular study of congenital erythrocytosis in 70 unrelated patients revealed a potential causal mutation in less than half of the cases (Where is/are the missing gene(s)?).Semantic proximity Read ↗

A case of Hb Rothschild (HBB: c.112T>A) with low pulse oximetry: a first familial presentation in China.Semantic proximity Read ↗

Hereditary gene mutations in Korean patients with isolated erythrocytosis.Semantic proximity Read ↗

Genetic basis of congenital erythrocytosis.Semantic proximity Read ↗

Genetic Background of Congenital Erythrocytosis.Semantic proximity Read ↗

Importance of Sequencing HBA1, HBA2 and HBB Genes to Confirm the Diagnosis of High Oxygen Affinity Hemoglobin.Semantic proximity Read ↗

Genetic basis of congenital erythrocytosis: mutation update and online databases.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.