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 ...
    • Pancreatic Cancer (Jul 2025)
    • 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)
    • 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 usage
  • Citations to this article

Advertisement

Research Article Free access | 10.1172/JCI105833

Hereditary sideroblastic anemia and glucose-6-phosphate dehydrogenase deficiency in a negro family

Ananda S. Prasad, Liborio Tranchida, Edward T. Konno, Lawrence Berman, Samuel Albert, Charles F. Sing, and George J. Brewer

Department of Medicine, Wayne State University, School of Medicine, Detroit, Michigan

Department of Pathology, Wayne State University, School of Medicine, Detroit, Michigan

Veterans Administration Hospital, Allen Park, Michigan

Detroit Institute for Cancer Research, and the Department of Human Genetics, (Simpson Memorial Institute), University of Michigan Medical School, Ann Arbor, Michigan 48207

Detroit Institute for Cancer Research, and the Department of Medicine (Simpson Memorial Institute), University of Michigan Medical School, Ann Arbor, Michigan 48207

Find articles by Prasad, A. in: PubMed | Google Scholar

Department of Medicine, Wayne State University, School of Medicine, Detroit, Michigan

Department of Pathology, Wayne State University, School of Medicine, Detroit, Michigan

Veterans Administration Hospital, Allen Park, Michigan

Detroit Institute for Cancer Research, and the Department of Human Genetics, (Simpson Memorial Institute), University of Michigan Medical School, Ann Arbor, Michigan 48207

Detroit Institute for Cancer Research, and the Department of Medicine (Simpson Memorial Institute), University of Michigan Medical School, Ann Arbor, Michigan 48207

Find articles by Tranchida, L. in: PubMed | Google Scholar

Department of Medicine, Wayne State University, School of Medicine, Detroit, Michigan

Department of Pathology, Wayne State University, School of Medicine, Detroit, Michigan

Veterans Administration Hospital, Allen Park, Michigan

Detroit Institute for Cancer Research, and the Department of Human Genetics, (Simpson Memorial Institute), University of Michigan Medical School, Ann Arbor, Michigan 48207

Detroit Institute for Cancer Research, and the Department of Medicine (Simpson Memorial Institute), University of Michigan Medical School, Ann Arbor, Michigan 48207

Find articles by Konno, E. in: PubMed | Google Scholar

Department of Medicine, Wayne State University, School of Medicine, Detroit, Michigan

Department of Pathology, Wayne State University, School of Medicine, Detroit, Michigan

Veterans Administration Hospital, Allen Park, Michigan

Detroit Institute for Cancer Research, and the Department of Human Genetics, (Simpson Memorial Institute), University of Michigan Medical School, Ann Arbor, Michigan 48207

Detroit Institute for Cancer Research, and the Department of Medicine (Simpson Memorial Institute), University of Michigan Medical School, Ann Arbor, Michigan 48207

Find articles by Berman, L. in: PubMed | Google Scholar

Department of Medicine, Wayne State University, School of Medicine, Detroit, Michigan

Department of Pathology, Wayne State University, School of Medicine, Detroit, Michigan

Veterans Administration Hospital, Allen Park, Michigan

Detroit Institute for Cancer Research, and the Department of Human Genetics, (Simpson Memorial Institute), University of Michigan Medical School, Ann Arbor, Michigan 48207

Detroit Institute for Cancer Research, and the Department of Medicine (Simpson Memorial Institute), University of Michigan Medical School, Ann Arbor, Michigan 48207

Find articles by Albert, S. in: PubMed | Google Scholar

Department of Medicine, Wayne State University, School of Medicine, Detroit, Michigan

Department of Pathology, Wayne State University, School of Medicine, Detroit, Michigan

Veterans Administration Hospital, Allen Park, Michigan

Detroit Institute for Cancer Research, and the Department of Human Genetics, (Simpson Memorial Institute), University of Michigan Medical School, Ann Arbor, Michigan 48207

Detroit Institute for Cancer Research, and the Department of Medicine (Simpson Memorial Institute), University of Michigan Medical School, Ann Arbor, Michigan 48207

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

Department of Medicine, Wayne State University, School of Medicine, Detroit, Michigan

Department of Pathology, Wayne State University, School of Medicine, Detroit, Michigan

Veterans Administration Hospital, Allen Park, Michigan

Detroit Institute for Cancer Research, and the Department of Human Genetics, (Simpson Memorial Institute), University of Michigan Medical School, Ann Arbor, Michigan 48207

Detroit Institute for Cancer Research, and the Department of Medicine (Simpson Memorial Institute), University of Michigan Medical School, Ann Arbor, Michigan 48207

Find articles by Brewer, G. in: PubMed | Google Scholar

Published June 1, 1968 - More info

Published in Volume 47, Issue 6 on June 1, 1968
J Clin Invest. 1968;47(6):1415–1424. https://doi.org/10.1172/JCI105833.
© 1968 The American Society for Clinical Investigation
Published June 1, 1968 - Version history
View PDF
Abstract

Detailed clinical and genetic studies have been performed in a Negro family, which segregated for sex-linked sideroblastic anemia and glucose-6-phosphate dehydrogenase (G-6-DP) deficiency. This is the first such pedigree reported. Males affected with sideroblastic anemia had growth retardation, hypochromic microcytic anemia, elevated serum iron, decreased unsaturated iron-binding capacity, increased 59Fe clearance, low 59Fe incorporation into erythrocytes, normal erythrocyte survival (51Cr), normal hemoglobin electrophoretic pattern, erythroblastic hyperplasia of marrow with increased iron, and marked increase in marrow sideroblasts, particularly ringed sideroblasts. Perinuclear deposition of ferric aggregates was demonstrated to be intramitochondrial by electron microscopy. Female carriers of the sideroblastic gene were normal but exhibited a dimorphic population of erythrocytes including normocytic and microcytic cells. The bone marrow studies in the female (mother) showed ringed marrow sideroblasts.

Studies of G-6-PD involved the methemoglobin elution test for G-6-PD activity of individual erythrocytes, quantitative G-6-PD assay, and electrophoresis. In the pedigree, linkage information was obtained from a doubly heterozygous woman, four of her sons, and five of her daughters. Three sons were doubly affected, and one was normal. One daughter appeared to be a recombinant. The genes appeared to be linked in the coupling phase in the mother. The maximum likelihood estimate of the recombination value was 0.14.

By means of Price-Jones curves, the microcytic red cells in peripheral blood were quantitated in female carriers. The sideroblast count in the bone marrow in the mother corresponded closely to the percentage of microcytic cells in peripheral blood. This is the second example in which the cellular expression of a sex-linked trait has been documented in the human red cells, the first one being G-6-PD deficiency. The coexistence of the two genes in doubly heterozygous females has made it possible to study correlations in cell counts; our studies showed a strong positive correlation except in the probable recombinant in which a reciprocal relation held which indicated that X-inactivation was at least regional, rather than locus by locus.

Images.

Browse pages

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

icon of scanned page 1415
page 1415
icon of scanned page 1416
page 1416
icon of scanned page 1417
page 1417
icon of scanned page 1418
page 1418
icon of scanned page 1419
page 1419
icon of scanned page 1420
page 1420
icon of scanned page 1421
page 1421
icon of scanned page 1422
page 1422
icon of scanned page 1423
page 1423
icon of scanned page 1424
page 1424
Version history
  • Version 1 (June 1, 1968): No description

Article tools

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

Metrics

  • 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