Go to JCI Insight
  • About
  • Editors
  • Consulting Editors
  • For authors
  • Publication ethics
  • Publication alerts by email
  • Advertising
  • Job board
  • Contact
  • Clinical Research and Public Health
  • Current issue
  • Past issues
  • By specialty
    • COVID-19
    • Cardiology
    • Gastroenterology
    • Immunology
    • Metabolism
    • Nephrology
    • Neuroscience
    • Oncology
    • Pulmonology
    • Vascular biology
    • All ...
  • Videos
    • Conversations with Giants in Medicine
    • Video Abstracts
  • Reviews
    • View all reviews ...
    • Complement Biology and Therapeutics (May 2025)
    • Evolving insights into MASLD and MASH pathogenesis and treatment (Apr 2025)
    • Microbiome in Health and Disease (Feb 2025)
    • Substance Use Disorders (Oct 2024)
    • Clonal Hematopoiesis (Oct 2024)
    • Sex Differences in Medicine (Sep 2024)
    • Vascular Malformations (Apr 2024)
    • View all review series ...
  • Viewpoint
  • Collections
    • In-Press Preview
    • Clinical Research and Public Health
    • Research Letters
    • Letters to the Editor
    • Editorials
    • Commentaries
    • Editor's notes
    • Reviews
    • Viewpoints
    • 100th anniversary
    • Top read articles

  • Current issue
  • Past issues
  • Specialties
  • Reviews
  • Review series
  • Conversations with Giants in Medicine
  • Video Abstracts
  • In-Press Preview
  • Clinical Research and Public Health
  • Research Letters
  • Letters to the Editor
  • Editorials
  • Commentaries
  • Editor's notes
  • Reviews
  • Viewpoints
  • 100th anniversary
  • Top read articles
  • About
  • Editors
  • Consulting Editors
  • For authors
  • Publication ethics
  • Publication alerts by email
  • Advertising
  • Job board
  • Contact
Top
  • View PDF
  • Download citation information
  • Send a comment
  • Terms of use
  • Standard abbreviations
  • Need help? Email the journal
  • Top
  • Abstract
  • Version history
Article has an altmetric score of 3

See more details

Referenced in 2 patents
8 readers on Mendeley
  • Article usage
  • Citations to this article

Advertisement

Research Article Free access | 10.1172/JCI111008

Hemolytic disease of the newborn caused by a new deletion of the entire beta-globin cluster.

M Pirastu, Y W Kan, C C Lin, R M Baine, and C T Holbrook

Find articles by Pirastu, M. in: JCI | PubMed | Google Scholar

Find articles by Kan, Y. in: JCI | PubMed | Google Scholar

Find articles by Lin, C. in: JCI | PubMed | Google Scholar

Find articles by Baine, R. in: JCI | PubMed | Google Scholar

Find articles by Holbrook, C. in: JCI | PubMed | Google Scholar

Published August 1, 1983 - More info

Published in Volume 72, Issue 2 on August 1, 1983
J Clin Invest. 1983;72(2):602–609. https://doi.org/10.1172/JCI111008.
© 1983 The American Society for Clinical Investigation
Published August 1, 1983 - Version history
View PDF
Abstract

We describe a new type of gamma delta beta-thalassemia in four generations of a family of Scotch-Irish descent. The proposita presented with hemolytic disease of the newborn, which was characterized by a microcytic anemia. Initial restriction endonuclease analysis of the DNA showed no grossly abnormal patterns, but studies of polymorphic restriction sites and gene dosage revealed an extensive deletion that removed all the beta- and beta-like globin genes from the affected chromosome. In situ hybridization of chromosome preparations with radioactive beta-globin gene probes showed that only one 11p homolog contained the beta-globin gene cluster in the affected family members.

Images.

Browse pages

Click on an image below to see the page. View PDF of the complete article

icon of scanned page 602
page 602
icon of scanned page 603
page 603
icon of scanned page 604
page 604
icon of scanned page 605
page 605
icon of scanned page 606
page 606
icon of scanned page 607
page 607
icon of scanned page 608
page 608
icon of scanned page 609
page 609
Version history
  • Version 1 (August 1, 1983): No description

Article tools

  • View PDF
  • Download citation information
  • Send a comment
  • Terms of use
  • Standard abbreviations
  • Need help? Email the journal

Metrics

Article has an altmetric score of 3
  • Article usage
  • Citations to this article

Go to

  • Top
  • Abstract
  • Version history
Advertisement
Advertisement

Copyright © 2025 American Society for Clinical Investigation
ISSN: 0021-9738 (print), 1558-8238 (online)

Sign up for email alerts

Referenced in 2 patents
8 readers on Mendeley
See more details