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Research Article Free access | 10.1172/JCI106651

An Unusual Hemoglobin Anomaly and Its Relation to α-Thalassemia and Hemoglobin-H Disease

G. D. Efremov, Ruth N. Wrightstone, T. H. J. Huisman, W. A. Schroeder, Carol Hyman, Jorge Ortega, and Kenneth Williams

Laboratory of Protein Chemistry, Medical College of Georgia, Augusta, Georgia 30902

Division of Chemistry and Chemical Engineering, California Institute of Technology, Pasadena, California 91109

Childrens Hospital of Los Angeles, Los Angeles, California 90054

Department of Pediatrics, University of Southern California School of Medicine, Los Angeles, California 90033

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

Laboratory of Protein Chemistry, Medical College of Georgia, Augusta, Georgia 30902

Division of Chemistry and Chemical Engineering, California Institute of Technology, Pasadena, California 91109

Childrens Hospital of Los Angeles, Los Angeles, California 90054

Department of Pediatrics, University of Southern California School of Medicine, Los Angeles, California 90033

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

Laboratory of Protein Chemistry, Medical College of Georgia, Augusta, Georgia 30902

Division of Chemistry and Chemical Engineering, California Institute of Technology, Pasadena, California 91109

Childrens Hospital of Los Angeles, Los Angeles, California 90054

Department of Pediatrics, University of Southern California School of Medicine, Los Angeles, California 90033

Find articles by Huisman, T. in: PubMed | Google Scholar

Laboratory of Protein Chemistry, Medical College of Georgia, Augusta, Georgia 30902

Division of Chemistry and Chemical Engineering, California Institute of Technology, Pasadena, California 91109

Childrens Hospital of Los Angeles, Los Angeles, California 90054

Department of Pediatrics, University of Southern California School of Medicine, Los Angeles, California 90033

Find articles by Schroeder, W. in: PubMed | Google Scholar

Laboratory of Protein Chemistry, Medical College of Georgia, Augusta, Georgia 30902

Division of Chemistry and Chemical Engineering, California Institute of Technology, Pasadena, California 91109

Childrens Hospital of Los Angeles, Los Angeles, California 90054

Department of Pediatrics, University of Southern California School of Medicine, Los Angeles, California 90033

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

Laboratory of Protein Chemistry, Medical College of Georgia, Augusta, Georgia 30902

Division of Chemistry and Chemical Engineering, California Institute of Technology, Pasadena, California 91109

Childrens Hospital of Los Angeles, Los Angeles, California 90054

Department of Pediatrics, University of Southern California School of Medicine, Los Angeles, California 90033

Find articles by Ortega, J. in: PubMed | Google Scholar

Laboratory of Protein Chemistry, Medical College of Georgia, Augusta, Georgia 30902

Division of Chemistry and Chemical Engineering, California Institute of Technology, Pasadena, California 91109

Childrens Hospital of Los Angeles, Los Angeles, California 90054

Department of Pediatrics, University of Southern California School of Medicine, Los Angeles, California 90033

Find articles by Williams, K. in: PubMed | Google Scholar

Published August 1, 1971 - More info

Published in Volume 50, Issue 8 on August 1, 1971
J Clin Invest. 1971;50(8):1628–1636. https://doi.org/10.1172/JCI106651.
© 1971 The American Society for Clinical Investigation
Published August 1, 1971 - Version history
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Abstract

A Chinese family with hemoglobin H in the propositus has been reinvestigated. Although the original propositus is now deceased, a sister has the same hematological manifestations. Her hemoglobin, like that of the deceased sister, contains hemoglobins A, H, and Bart's. In addition, however, two minor components have been detected. These minor components appear to have abnormal α-chains and are also present in the maternal grandmother, the mother, a maternal aunt, and three other siblings but only in about one-tenth the amount. One of the minor components may be the same as Hb-Thai (25). The father has the characteristics of classical α-thalassemia. These results are discussed in relation to current concepts of α-thalassemia as they relate to “silent” and “classical” α-thalassemia and to possible multiple α-chain loci.

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