The Molecular Defects of α-Thalassemia in the Filipino

A. M. Dozy Hematology Service, San Francisco Generzl Hospital, Department of Medicine, University of California, San Francisco, California, 94110

H. Kabisch Hematology Service, San Francisco Generzl Hospital, Department of Medicine, University of California, San Francisco, California, 94110

J. Baker Pathology Laboratory, Memorial Hospital, Long Beach, California, 90801

H. M. Koenig Department of Pediatrics, Navel Regional Medical Center, San Diego, California, 92134

S. Kurachi Department of Pediatrics, Navel Regional Medical Center, San Diego, California, 92134

G. Stamatoyannopoulos Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, Washington, 98195

D. Todd Department of Medicine, University of Hong Kong, Hong Kong

Y. W. Kan Hematology Service, San Francisco Generzl Hospital, Department of Medicine, University of California, San Francisco, California, 94110; Howard Hughes Medical Institute Laboratory, San Francisco, California, 94110

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Abstract

Molecular hybridization with synthetic radioactive DNA (cDNA) complementary to a globin mRNA sequences shows that, as in most other Southeast Asian populations, the a globin structural genes are deleted in Filipinos affected by the α-thalassemia syndromes. Thus, all 4 α-globin structural genes are deleted in homozygous α-thalassemia with hydrops fetalis, 3 and 2 structural genes are deleted in hemoglobin H disease and α-thalassemia-1 respectively.

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The Molecular Defects of α-Thalassemia in the Filipino

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