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Hemoglobin Sabine [beta 91 (F7) Leu-->Pro]: occurrence in a Sardinian individual with hemolytic anemia and inclusion bodies.

Haematologica - 1 Jan 2000

Gasperini D, Galanello R, Melis M A, Iannelli S, Giordano P, Bernini L F, Cao A

Abstract excerpt

BACKGROUND: Hemoglobin (Hb) Sabine (beta 91 Leu-->Pro) is an unstable variant detected for the first time in a 16-year-old Scottish-English-German girl affected by moderately severe hemolytic anemia. A second case was described in a patient of Yugoslavian descent. We report another case of this Hb variant arising as a de novo mutation in a Sardinian patient. METHODS: Definition of the mutation was obtained by DNA...

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PMID: 1336469

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