Symptomatic erythrocytosis associated with a compound heterozygosity for Hb Lepore-Boston-Washington (δ87-β116) and Hb Johnstown [β109(G11)Val→Leu, GTG>TTG]

Susumu Inoue, Jennifer Oliveira, James Hoyer, Mahesh Sharman

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

Hb Johnstown [β109(G11)Val→Leu, GTG>TTG] has previously been described as a high oxygen affinity variant in a heterozygous state and in combination with β0-thalassemia (β0-thal). Because the variant does not separate from Hb A by routine methods it may be easily missed unless clinical suspicion is high. Hb Lepore-Boston-Washington (Hb LBW; δ87-β116) is a δβ hybrid variant that clinically manifests similarly to a β-thal. Hb LBW is not detected by routine polymerase chain reaction (PCR) sequencing but is easily detected by electrophoretic methods. We describe a 19-year-old African American male with a compound heterozygosity for Hb Johnstown and Hb LBW. The patient presented with progressively worsening chest pains, headaches and erythrocytosis. He was repeatedly phlebotomized with symptomatic improvement and subsequently was confirmed to have the high oxygen affinity hemoglobin (Hb) variant. The lowest Hb and hematocrit (packed cell volume, PCV) achieved by phlebotomy was 16.1 g/dL and 0.51 L/L, respectively. Currently, he is no longer being phlebotomized, and is feeling relatively well except for minor chest pain. It is unclear to what degree the phlebotomies contributed to his subjective improvement. The combination of Hbs Johnstown and LBW has not been heretofore described, and in this case, was associated with marked symptomatic erythrocytosis. This unique combination results in a more pronounced phenotype, similar to or slightly more severe than, compound Hb Johnstown/β0-thal. This compound hemoglobinopathy will likely not be correctly classified using a single method of Hb detection and underscores the need for multiple characterization methods when indicated by the clinical picture.

Original languageEnglish (US)
Pages (from-to)362-370
Number of pages9
JournalHemoglobin
Volume36
Issue number4
DOIs
StatePublished - Aug 1 2012

Fingerprint

Polycythemia
Hemoglobins
Phlebotomy
Thalassemia
Chest Pain
Oxygen
Hemoglobin A
Hemoglobinopathies
Polymerase chain reaction
Cell Size
Hematocrit
African Americans
Headache
hemoglobin Johnstown
hemoglobin Lepore Boston-Washington
Emotions
Phenotype
Polymerase Chain Reaction

Keywords

  • Decreased p50
  • Erythrocytosis
  • Hb Johnstown
  • Hb Lepore-Boston-Washington (Hb LBW)
  • High oxygen affinity hemoglobin (Hb)
  • Left-shifted oxygen dissociation

ASJC Scopus subject areas

  • Hematology
  • Genetics(clinical)
  • Clinical Biochemistry
  • Biochemistry, medical

Cite this

@article{5074446295f64a3394fbaa11b9cb34c1,
title = "Symptomatic erythrocytosis associated with a compound heterozygosity for Hb Lepore-Boston-Washington (δ87-β116) and Hb Johnstown [β109(G11)Val→Leu, GTG>TTG]",
abstract = "Hb Johnstown [β109(G11)Val→Leu, GTG>TTG] has previously been described as a high oxygen affinity variant in a heterozygous state and in combination with β0-thalassemia (β0-thal). Because the variant does not separate from Hb A by routine methods it may be easily missed unless clinical suspicion is high. Hb Lepore-Boston-Washington (Hb LBW; δ87-β116) is a δβ hybrid variant that clinically manifests similarly to a β-thal. Hb LBW is not detected by routine polymerase chain reaction (PCR) sequencing but is easily detected by electrophoretic methods. We describe a 19-year-old African American male with a compound heterozygosity for Hb Johnstown and Hb LBW. The patient presented with progressively worsening chest pains, headaches and erythrocytosis. He was repeatedly phlebotomized with symptomatic improvement and subsequently was confirmed to have the high oxygen affinity hemoglobin (Hb) variant. The lowest Hb and hematocrit (packed cell volume, PCV) achieved by phlebotomy was 16.1 g/dL and 0.51 L/L, respectively. Currently, he is no longer being phlebotomized, and is feeling relatively well except for minor chest pain. It is unclear to what degree the phlebotomies contributed to his subjective improvement. The combination of Hbs Johnstown and LBW has not been heretofore described, and in this case, was associated with marked symptomatic erythrocytosis. This unique combination results in a more pronounced phenotype, similar to or slightly more severe than, compound Hb Johnstown/β0-thal. This compound hemoglobinopathy will likely not be correctly classified using a single method of Hb detection and underscores the need for multiple characterization methods when indicated by the clinical picture.",
keywords = "Decreased p50, Erythrocytosis, Hb Johnstown, Hb Lepore-Boston-Washington (Hb LBW), High oxygen affinity hemoglobin (Hb), Left-shifted oxygen dissociation",
author = "Susumu Inoue and Jennifer Oliveira and James Hoyer and Mahesh Sharman",
year = "2012",
month = "8",
day = "1",
doi = "10.3109/03630269.2012.679717",
language = "English (US)",
volume = "36",
pages = "362--370",
journal = "Hemoglobin",
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T1 - Symptomatic erythrocytosis associated with a compound heterozygosity for Hb Lepore-Boston-Washington (δ87-β116) and Hb Johnstown [β109(G11)Val→Leu, GTG>TTG]

AU - Inoue, Susumu

AU - Oliveira, Jennifer

AU - Hoyer, James

AU - Sharman, Mahesh

PY - 2012/8/1

Y1 - 2012/8/1

N2 - Hb Johnstown [β109(G11)Val→Leu, GTG>TTG] has previously been described as a high oxygen affinity variant in a heterozygous state and in combination with β0-thalassemia (β0-thal). Because the variant does not separate from Hb A by routine methods it may be easily missed unless clinical suspicion is high. Hb Lepore-Boston-Washington (Hb LBW; δ87-β116) is a δβ hybrid variant that clinically manifests similarly to a β-thal. Hb LBW is not detected by routine polymerase chain reaction (PCR) sequencing but is easily detected by electrophoretic methods. We describe a 19-year-old African American male with a compound heterozygosity for Hb Johnstown and Hb LBW. The patient presented with progressively worsening chest pains, headaches and erythrocytosis. He was repeatedly phlebotomized with symptomatic improvement and subsequently was confirmed to have the high oxygen affinity hemoglobin (Hb) variant. The lowest Hb and hematocrit (packed cell volume, PCV) achieved by phlebotomy was 16.1 g/dL and 0.51 L/L, respectively. Currently, he is no longer being phlebotomized, and is feeling relatively well except for minor chest pain. It is unclear to what degree the phlebotomies contributed to his subjective improvement. The combination of Hbs Johnstown and LBW has not been heretofore described, and in this case, was associated with marked symptomatic erythrocytosis. This unique combination results in a more pronounced phenotype, similar to or slightly more severe than, compound Hb Johnstown/β0-thal. This compound hemoglobinopathy will likely not be correctly classified using a single method of Hb detection and underscores the need for multiple characterization methods when indicated by the clinical picture.

AB - Hb Johnstown [β109(G11)Val→Leu, GTG>TTG] has previously been described as a high oxygen affinity variant in a heterozygous state and in combination with β0-thalassemia (β0-thal). Because the variant does not separate from Hb A by routine methods it may be easily missed unless clinical suspicion is high. Hb Lepore-Boston-Washington (Hb LBW; δ87-β116) is a δβ hybrid variant that clinically manifests similarly to a β-thal. Hb LBW is not detected by routine polymerase chain reaction (PCR) sequencing but is easily detected by electrophoretic methods. We describe a 19-year-old African American male with a compound heterozygosity for Hb Johnstown and Hb LBW. The patient presented with progressively worsening chest pains, headaches and erythrocytosis. He was repeatedly phlebotomized with symptomatic improvement and subsequently was confirmed to have the high oxygen affinity hemoglobin (Hb) variant. The lowest Hb and hematocrit (packed cell volume, PCV) achieved by phlebotomy was 16.1 g/dL and 0.51 L/L, respectively. Currently, he is no longer being phlebotomized, and is feeling relatively well except for minor chest pain. It is unclear to what degree the phlebotomies contributed to his subjective improvement. The combination of Hbs Johnstown and LBW has not been heretofore described, and in this case, was associated with marked symptomatic erythrocytosis. This unique combination results in a more pronounced phenotype, similar to or slightly more severe than, compound Hb Johnstown/β0-thal. This compound hemoglobinopathy will likely not be correctly classified using a single method of Hb detection and underscores the need for multiple characterization methods when indicated by the clinical picture.

KW - Decreased p50

KW - Erythrocytosis

KW - Hb Johnstown

KW - Hb Lepore-Boston-Washington (Hb LBW)

KW - High oxygen affinity hemoglobin (Hb)

KW - Left-shifted oxygen dissociation

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U2 - 10.3109/03630269.2012.679717

DO - 10.3109/03630269.2012.679717

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VL - 36

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JF - Hemoglobin

SN - 0363-0269

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