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Cited by 49Hemoglobinopathies and Related DisordersHemoglobin structure and functionBlood groups and transfusion

Hb Potomac (101 Glu replaced by Asp): speculations on placental oxygen transport in carriers of high-affinity hemoglobins

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Charache, S, Jacobson, R, Brimhall, B, Murphy, EA, Hathaway, P, Winslow, R, Jones, R, Rath, C +1 more·1978·Blood
DOI 10.1182/blood.v51.2.331.331
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Abstract

Blood from a woman with unexplained erythrocytosis had increased oxygen affinity, but no abnormality could be detected by electrophoresis or chromatography of her hemolysate. Separation of the tryptic peptides of her beta chains disclosed two half-sized peaks in the regions of beta T- 11. The faster of these was abnormal, with the structure beta 101 Glu replaced by Asp. The new hemoglobin was called “Potomac.” Three of the proband's four surviving siblings and both of her children were carriers. Differences in the ratio of carrier: normal children born to male of female carriers of 23 other high-affinity hemoglobins were not significant. The high proportion of carriers in this kindred was probably due to chance alone, and not because high maternal oxygen affinity interfered with oxygen transport to fetuses with normal hemoglobin.

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Crossref · 10.1182/blood.v51.2.331.331

Cites

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Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

  • Fourteen of 113 literature-annotated disease mutations were either incorrect or incomplete.

    “Unexpectedly, 14 of 113 literature-annotated disease mutations were either incorrect or incomplete (table S7) (35–39).”

    From Carrier testing for severe childhood recessive diseases by next-generation sequencing (2011) · cites this paper as [39]

    Structural Studies (pp. 5–6) identifies the Hb Potomac substitution as β101 Glu→Asp. Our copy does not assess literature-annotated mutations for errors or incompleteness, or report a count of 14 out of 113. (LLM, conf=0.78)

    Experimental — accuracy not yet measured

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Cites

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Research works printed but not linked: 1

  1. [26]26. Charache S, Murphy EA: Is placental oxygen transport normal in carriers of high affinity hemoglobins? Proceedings, INSERM Conference on Abnormal Hemoglobins, 1977

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Related

Authors
Charache, S., Jacobson, R., Brimhall, B., Murphy, E., Hathaway, P., Winslow, R., Jones, R., Rath, C., & Simkovich, J.
Affiliations
Johns Hopkins University (US)
Venue
Blood
Publisher
American Society of Hematology
Published
1978-02-01
Volume
51
Issue
2
Pages
331-338
ISSN
  • 0006-4971 (ISSN-L)
  • 1528-0020
DOI
10.1182/blood.v51.2.331.331
OpenAlex
W3178496094
Cited by
49
References
26
Citations by year
2023: 1 · 2017: 2 · 2016: 2 · 2013: 1 · 2012: 1
FWCI
2.49
Type
journal article
Language
en
Open access
Locations
  • Blood (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Health Sciences › Medicine › Genetics › Hemoglobinopathies and Related Disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Hemoglobin structure and function
  • Health Sciences › Medicine › Hematology › Blood groups and transfusion
Keywords
beta-globin gene mutations, beta-globin chain, erythrocytosis, carrier frequency, fetal hemoglobin, hemoglobin variants, kindred
MeSH terms
Adult, Amino Acids, Chromatography, Electrophoresis, Female, Hemoglobins, Abnormal, Humans, Maternal-Fetal Exchange, Oxygen, Pedigree, Placenta, Pregnancy

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