Clinical features

Most affected persons are completely healthy and are identified only when a routine haematological examination shows an unusually high haemoglobin level or packed cell volume.

There have been one or two reports of arterial or venous occlusive disease. There is no splenomegaly and, apart from a raised red cell mass, there are no associated haematological findings. Although it might be expected that a high-oxygen-affinity haemoglobin would cause defective oxygenation of the fetus, none of the reported families has had a history of frequent stillbirths.

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