Detection of Carriers of Haemophilia

Henry Ekert; Holger Helliger; Robert H. Muntz

doi:10.1055/s-0038-1649072

Thrombosis and Haemostasis, Table of Contents

Thromb Haemost 1973; 30(02): 255-262
DOI: 10.1055/s-0038-1649072

Original Article

Schattauer GmbH

Detection of Carriers of Haemophilia

Henry Ekert

¹Royal Children’s Hospital Research Foundation, Parkville, Victoria, 3052, Australia

,

Holger Helliger

¹Royal Children’s Hospital Research Foundation, Parkville, Victoria, 3052, Australia

,

Robert H. Muntz

¹Royal Children’s Hospital Research Foundation, Parkville, Victoria, 3052, Australia

› Author Affiliations

Abstract

Summary

Protein with antihaemophilic factor antigenicity (AHF-like protein) and the biological activity of antihaemophilic factor (AHF activity) was measured in 13 obligatory and 21 suspected carriers of haemophilia and 20 normals. The mean level of AHF-like protein was significantly higher in the obligatory and suspected carriers but there was a wide range of values. The ratio of AHF activity to AHF-like protein was significantly lowered. In 31 of 34 cases a diagnosis of the carrier status could be made by the use of this ratio. In 18 the AHF activity was within the normal range and in 15 of these the ratio could be used to diagnose the carrier status. The ratio was not diagnostic in 3 obligatory carriers. Estimation of the ratio of AHF activity to AHF-like protein is a valuable adjunct to genetic counselling in haemophilia.

Full Text

References

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