A Syllabus of Thalassemia Mutations (1997)

Titus H. J. Huisman
Marianne F. H. Carver
Erol Baysal


  1. Beta-Thalassemia
    1. Nondeletional (single nucleotide mutations and frameshifts)
    2. Deletion of 25 or More Nucleotides
    3. Insertion of a Retrotransposable Element
    4. Population Surveys
    5. Unlinked to a Beta-Globin Gene Mutation or Deletion
  2. Delta-Thalassemia
  3. Gamma-Thalassemia
  4. Hereditary Persistence of Fetal Hemoglobin (HPFH)
    1. Nondeletional
    2. Swiss Type (including gamma-globin gene rearrangements)
    3. Deletional
  5. (DeltaBeta)°-Thalassemia
    1. GGammaAGamma(DeltaBeta)°
    2. Lepore Hemoglobins
    3. GGamma(AGammaDeltaBeta)°
    4. (EpsilonGammaDeltaBeta)°
  6. Alpha-Thalassemia
    1. Nondeletional
    2. Deletional (alpha-thal-2)
    3. Mutations Occurring on a Chromosome with a -Alpha(3.7 kb) or -Alpha(4.2 kb) Deletion
    4. Deletional, Involving Both Alpha-Globin Genes (alpha-thal-1)
    5. Deletion of the Locus Control Region HS-40 (alpha-globin genes intact)
    6. Hb H Disease

This material is from the book A Syllabus of Thalassemia Mutations (1997) by Titus H.J. Huisman, Marianne F.H. Carver, and Erol Baysal, published by The Sickle Cell Anemia Foundation in Augusta, GA, USA. Copyright © 1997 by Titus H.J. Huisman. All rights reserved. Neither this work nor any part may be reproduced or transmitted in any form or by any means, electronic or mechanical, microfilming and recording, or by any information storage and retrieval systems, without permission in writing from the Author.