Erythrocytosis Due to Bisphosphoglycerate Mutase Deficiency with Concurrent Glucose-6-Phosphate Dehydrogenase (G-6-PD) Deficiency

James D. Hoyer, Steven L. Allen, Ernest Beutler, Kathleen Kubik, Carol West, Virgil F. Fairbanks

Research output: Contribution to journalArticle

28 Scopus citations

Abstract

A 28-year-old asymptomatic male of Iranian Jewish (Meshadi) heritage was found on routine exam to have an erythrocytosis (RBC = 6.22 × 10 12/l, Hgb = 19.2 g/dl, Hct = 58.9%). Splenomegaly was absent on physical exam. There was no family history of erythrocytosis. His oxygen dissociation curve was left-shifted with a p50 of 19 mmHg (normal = 25-32 mmHg). Hemoglobin electrophoresis showed no abnormalities. DNA sequencing of the hemoglobin β globin gene and both α globin genes did not reveal a mutation. A 2,3-bisphosphoglycerate (BPG) level was markedly decreased at 0.3 μmol/g Hb (normal = 11.4-19.4 μmol/g Hb). The patient's bisphosphoglycerate mutase (BPGM) enzyme activity was also markedly decreased at 0.16 IU/g Hb (normal = 4.13-5.43 IU/g Hb). A red cell enzyme panel revealed a markedly decreased G-6-PD level (0.3 U/g Hb, normal = 8.6-18.6 U/g Hb). His parents and a brother were also available for evaluation. Both parents showed normal 2,3-BPG levels but BPGM activity approximately 50% of normal. Paradoxically, the brother showed normal BPGM activity but a slightly decreased 2,3-BPG level. All family members had markedly decreased G-6-PD activity. DNA sequencing of the BPGM gene showed the propositus to be homozygous for 185 G→A, Arg 62 Gln in exon 2. Th us, the erythrocytosis in this patient is secondary to low 2,3-BPG levels, due to a deficiency in BPG mutase. This appears due to consanguinity within this family.

Original languageEnglish (US)
Pages (from-to)205-208
Number of pages4
JournalAmerican journal of hematology
Volume75
Issue number4
DOIs
StatePublished - Apr 1 2004

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Keywords

  • Bisphosphoglycerate mutase
  • Erythrocytosis
  • Glucose-6-phosphate dehydrogenase
  • RBC enzymes

ASJC Scopus subject areas

  • Hematology

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