HB Yokohama [β31(B13)LEU→PRO] Detected AS A de novo Mutation in a Yugoslavian Boy

D. Plašeska Macedonian Academy of Sciences and Arts Research Center for New Technologies, 91000, Skopje, Yugoslavia

L. Janković Macedonian Academy of Sciences and Arts Research Center for New Technologies, 91000, Skopje, Yugoslavia

A. J. Dimovski Macedonian Academy of Sciences and Arts Research Center for New Technologies, 91000, Skopje, Yugoslavia

D. Milenović Department of Pediatrics, Faculty of Medicine, 18000, Niš, Yugoslavia

D. Jurišić Department of Clinical Chemistry, University Hospital, Dr. O. Novosel, 41000, Zagreb, Yugoslavia

G. D. Efremov Macedonian Academy of Sciences and Arts Research Center for New Technologies, 91000, Skopje, Yugoslavia

Abstract

Hb Yokohama [β31(B13)Leu→Pro] was observed in a young Yugoslavian boy as a de novo mutation. The child exhibited severe transfusion-dependent hemolytic anemia. The variant was detected and quantitated at 10.5% by reversed phase high performance liquid chromatography. In vitro globin chain synthesis showed a slight imbalance with an α/β ratio of 1.38. Structural characterization of the abnormal β chain was done by high performance liquid chroma-tographic analysis, on material obtained by high salt precipitation. The mutation was confirmed by sequencing of the amplified DNA.

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HB Yokohama [β31(B13)LEU→PRO] Detected AS A de novo Mutation in a Yugoslavian Boy

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HB Yokohama [β31(B13)LEU→PRO] Detected AS A de novo Mutation in a Yugoslavian Boy

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