Molecular Diagnosis of a Case of Hb Phnom Penh [α117(GH5)Phe-I1e-α118(H1)Thr (α1)]

Rock Y.-Y. Leung Pathology Department, United Christian Hospital, Hong KongCorrespondence[email protected]

Edmond S.-K. Ma Department of Pathology, Hong Kong Sanatorium Hospital, Hong Kong

Amy Y.-Y. Chan Division of Haematology, Department of Pathology, Queen Mary Hospital, Hong Kong

Eudora Y.-D. Chow Pathology Department, United Christian Hospital, Hong Kong

Abstract

We report the first case of Hb Phnom Penh where a molecular study was done on the patient's sample. The result confirmed the predicted DNA sequence change involved in the mutation, which was delineated by another group in 1998 using amino acid analysis.

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Molecular Diagnosis of a Case of Hb Phnom Penh [α117(GH5)Phe-I1e-α118(H1)Thr (α1)]

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Molecular Diagnosis of a Case of Hb Phnom Penh [α117(GH5)Phe-I1e-α118(H1)Thr (α1)]

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