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<p><i>JAK2</i>-unmutated erythrocytosis (JUE) is a rare condition with diverse genetic causes. Data on Indian patients with JUE are limited. This study evaluated the clinical and laboratory characteristics of young Indian males with isolated erythrocytosis and identified underlying molecular defects using Sanger sequencing. This ambispective study enrolled 100 males aged ≤ 40 years with persistent erythrocytosis (hemoglobin &gt; 16.5&#xa0;g/dL or hematocrit ≥ 0.52), documented on at least two occasions. Patients with <i>JAK2 V617F</i> mutation, secondary causes, or myeloproliferative neoplasms were excluded. Clinical assessment included symptoms, family history, and risk factors. Laboratory tests included blood counts, serum erythropoietin, bone marrow examination, and imaging. Sanger sequencing targeted exons of <i>EPOR</i>,<i> VHL</i>,<i> EGLN1</i>,<i> EPAS1</i>,<i> HBB</i>,<i> HBA1</i>,<i> HBA2</i>,<i> and BPGM.</i> Median age was 29 years (range: 17–40). Hemoglobin ranged 16.5–24.1&#xa0;g/dL, with mean hematocrit 53.7%. Serum EPO levels were distributed as: 85% normal, 10% low, and 2.5% elevated. 65% were asymptomatic; others had headache, hypertension, or thrombosis. Bone marrow was unremarkable, and all tested negative for <i>JAK2 V617F</i> mutations. Sequencing identified mutations in four patients: three with <i>VHL c.598&#xa0;C &gt; T (p.Arg200Trp)</i> variants (one homozygous, two heterozygous) and one with <i>EPOR c.1460&#xa0;A &gt; G (p.Asn487Ser).</i> Most young Indian males with JUE remain idiopathic despite comprehensive evaluation. Rare pathogenic variants in <i>VHL</i> and <i>EPOR</i> underscore the need for molecular testing; broader next-generation sequencing panels are likely to improve diagnostic yield and refine management.</p>

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Clinical and Laboratory Characteristics of JAK2-Unmutated Erythrocytosis - A Study from North India

  • 期刊论文

  • 发表日期：

    2026年5月18日

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  • Pratyusha Gudapati,
  • Ganesh Kumar Viswanathan,
  • Jasmita Dass,
  • Richa Chauhan,
  • Mukul Aggarwal,
  • Pradeep Kumar,
  • Rishi Dhawan,
  • Ravi Ranjan,
  • Harsh Goel,
  • Pranay Tanwar,
  • Tulika Seth,
  • Manoranjan Mahapatra

摘要

JAK2-unmutated erythrocytosis (JUE) is a rare condition with diverse genetic causes. Data on Indian patients with JUE are limited. This study evaluated the clinical and laboratory characteristics of young Indian males with isolated erythrocytosis and identified underlying molecular defects using Sanger sequencing. This ambispective study enrolled 100 males aged ≤ 40 years with persistent erythrocytosis (hemoglobin > 16.5 g/dL or hematocrit ≥ 0.52), documented on at least two occasions. Patients with JAK2 V617F mutation, secondary causes, or myeloproliferative neoplasms were excluded. Clinical assessment included symptoms, family history, and risk factors. Laboratory tests included blood counts, serum erythropoietin, bone marrow examination, and imaging. Sanger sequencing targeted exons of EPOR, VHL, EGLN1, EPAS1, HBB, HBA1, HBA2, and BPGM. Median age was 29 years (range: 17–40). Hemoglobin ranged 16.5–24.1 g/dL, with mean hematocrit 53.7%. Serum EPO levels were distributed as: 85% normal, 10% low, and 2.5% elevated. 65% were asymptomatic; others had headache, hypertension, or thrombosis. Bone marrow was unremarkable, and all tested negative for JAK2 V617F mutations. Sequencing identified mutations in four patients: three with VHL c.598 C > T (p.Arg200Trp) variants (one homozygous, two heterozygous) and one with EPOR c.1460 A > G (p.Asn487Ser). Most young Indian males with JUE remain idiopathic despite comprehensive evaluation. Rare pathogenic variants in VHL and EPOR underscore the need for molecular testing; broader next-generation sequencing panels are likely to improve diagnostic yield and refine management.