Sickle cell disease in a carrier with pyruvate kinase deficiency

Nazeer AlliDepartment of Molecular Medicine and HaematologyWits University/NHLS, Johannesburg, South Africa

Marius CoetzeeDepartment of Internal Medicine and Department of Haematology and Cell BiologyUniversity of the Free State and Universities Hospital, Bloemfontein, South Africa

Vernon LouwDepartment of Internal Medicine and Department of Haematology and Cell BiologyUniversity of the Free State and Universities Hospital, Bloemfontein, South Africa

Ben van RensburgDepartment of Internal Medicine and Department of Haematology and Cell BiologyUniversity of the Free State and Universities Hospital, Bloemfontein, South Africa

Gerrit RossouwDepartment of Internal Medicine and Department of Haematology and Cell BiologyUniversity of the Free State and Universities Hospital, Bloemfontein, South Africa

Lisa ThompsonDepartment of Haematological MedicineKing's College Hospital, London, UK

Serge PissardLaboratoire de Biochimie Génétique, Hôpital Henri Mondor, Creteil, France

Swee Lay TheinDepartment of Haematological MedicineKing's College Hospital, London, UK

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Abstract

We report a case of sickle cell disease (SCD) in a patient who is a carrier for the sickle mutation with no additional mutations in the β globin genes. Sequencing of the PK-LR genes showed that she was also heterozygous for the L272V mutation in exon 7, which is known to cause pyruvate kinase (PK) deficiency. It appeared that sickling in the heterozygous state is related to decreased oxygen affinity associated with PK deficiency in this unusual case.

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Sickle cell disease in a carrier with pyruvate kinase deficiency

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