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A New Genetic Basis for Hemoglobin-H Disease

List of authors.
  • Lynne Pressley, M.B.,
  • D. R. Higgs, M.B.,
  • J. B. Clegg, Ph.D.,
  • R. P. Perrine, M.D.,
  • M. E. Pembrey, M.D.,
  • and D. J. Weatherall, M.D.

Abstract

We studied 11 families with α-thalassemia from the Qatif oasis population of eastern Saudi Arabia to determine the genetic and molecular basis of hemoglobin-H disease, which is being encountered in this area with increasing frequency. The results show that there are two common α-thalassemia haplotypes, a deletion (–α/) determinant and a nondeletion (ααT/) determinant, which interact to produce a series of overlapping phenotypes. The most severe, hemoglobin-H disease, results from the homozygous state for the nondeletion determinant — a pattern of inheritance not previously recognized for this condition. Its molecular and genetic properties are thus different from those that produce the condition in Oriental or Mediterranean populations. (N Engl J Med. 1980; 303:1383–8.)

Funding and Disclosures

Supported by grants (RG 78043 and RF 77088) from the Rockefeller Foundation.

We thank Dr. B. Forget for the α plasmid JW101; Dr. Ruth Sanger of the Medical Research Council Blood Group Unit, London, for performing blood-group studies on Family A; the Arabian-American Oil Company, Dhahran, and Hassan Ali Al Ghanim and Abdul Rasheed, without whom the collection of data from Saudi Arabia would not have been possible; Bev Aldridge for technical assistance; and Janet Watt for assistance in preparing the manuscript.

Author Affiliations

From the Medical Research Council Molecular Haematology Unit, Nuffield Department of Clinical Medicine, University of Oxford, John Radcliffe Hospital, Oxford, England; the Mothercare Unit of Paediatric Genetics, Institute of Child Health, University of London, London, England; and the Arabian-American Oil Company, Dhahran, Saudi Arabia. Address reprint requests to Dr. Weatherall at the Nuffield Department of Clinical Medicine, John Radcliffe Hospital, University of Oxford, Headington, Oxford, OX3 9DU, England.

Dr. Higgs holds a Training Fellowship from the Medical Research Council.

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