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  • Title: Hb Hinsdale [beta 139 (H17)Asn----Lys]: a variant in the central cavity showing reduced affinity for oxygen and 2,3-diphosphoglycerate.
    Author: Moo-Penn WF, Johnson MH, Jue DL, Lonser R.
    Journal: Hemoglobin; 1989; 13(5):455-64. PubMed ID: 2513289.
    Abstract:
    Hb Hinsdale was detected in two sisters and in a son and daughter of one of them as a band migrating in the Hb F position on cellulose acetate, pH 8.5. On citrate agar (pH 6.3) the variant hemoglobin has a mobility like that of Hb S. Hematologic data from these individuals appear normal except for mild anemia. Oxygen affinity studies show that the variant has low affinity for oxygen and reduced cooperativity. Results of tests for instability were negative. The mutation involves a site that lies in the central cavity close to the 2,3-diphosphoglycerate pocket, so it is not surprising that the variant shows a reduced ability to react with this effector molecule.
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