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Hemoglobin J rovigo (a⁵³ ALA ->ASP) is not associated with an a-globin gene deletion

Wilson Araújo da Silva Junior^I; João Targino de Araújo^II; Marco Antonio Zago^I

^ILaboratório de Hematologia, Hospital das Clínicas de Ribeirão Preto, 14048-900 Ribeirão Preto, SP, Brasil. Send correspondence to W.A.S.J.
^IIHospital das Clinicas, Faculdade de Medicina - USP, 05403-900, São Paulo, SP

ABSTRACT

A patient of Italian descent exhibited an abnormal hemoglobin with a fast electrophoretic migration, corresponding to 30% of total hemoglobin. The cromatographic analysis disclosed an a globin chain mutation; the tryptic digestion of the abnormal chain followed by HPLC analysis identified Hb J Rovigo (a⁵³ Ala -> Asp). DNA digested with Bam HI restriction enzyme revealed a single 14 kb band after hybridization to an a specific probe. These results demonstrate that the hemoglobin J Rovigo mutation is not associated with a-thalassemia, occurring on chromosome 16, where a pair of nondeleted a genes is present.

Keywords: Hemoglobin J rovigo; Gene deletion.

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