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Thalassæmia and the Abnormal Human Hæmoglobins

Naturevolume 191pages398399 (1961) | Download Citation



THE preponderance of hæmoglobin A over hæmoglobin S in sickle-cell trait was observed in the course of our initial studies on the hæmoglobin of sickling cells1. Later work carried out in collaboration with other laboratories showed that the ratio of these hæmoglobins is inherited2 and that simultaneous presence of a gene for an abnormal hæmoglobin and a gene for thalassæmia results in partial or complete suppression of synthesis3,4 of hæmoglobin A. An exceptional case in which presence of a thalassæmia gene did not alter the proportion of hæmoglobins A and C in hæmoglobin C trait was observed elsewhere5. These findings formed the basic evidence on which we proposed the following concepts about the inheritance of hæmoglobin: (1) alleles may be present that control the synthesis of hæmoglobin A at different rates6; (2) there may exist more than one locus for thalassæmia7; (3) in some cases thalasssæmia and abnormal hæmoglobins may be controlled at the same locus8; (4) a structurally abnormal but electrophoretically normal hæmoglobin may be synthesized at sub-normal rate in thalassæmia8,9.

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  1. National Institutes of Health, Public Health Service, Bethesda, 14, Maryland

  2. California Institute of Technology, Pasadena, California



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