Thromb Haemost 1993; 70(05): 774-776
DOI: 10.1055/s-0038-1649668
Clinical Studies
Schattauer GmbH Stuttgart

Female Twins with Severe Christmas Disease (Hemophilia B)[*]

Karin Wollina
1   The Division of Hematology, Department of Pediatrics, Friedrich Schiller University, Germany
,
D J Bowen
2   The Department of Hematology, University of Wales, U. K.
,
G Syrbe
3   The Community Hospital Stadtroda, Germany
,
F Zintl
1   The Division of Hematology, Department of Pediatrics, Friedrich Schiller University, Germany
› Author Affiliations
Further Information

Publication History

Received 27 May 1993

Accepted after revision 30 June 1993

Publication Date:
05 July 2018 (online)

Summary

Hemophilia B is an X-linked bleeding disorder. We report on female twins, who were conspicious in prolonged bleeding after venipuncture as well as hematomas after intramuscular injections even in the first months of their life. Their father suffering from a severe hemophilia B deceased in 1992. Their mother, half-brother and grandmother from their father’s side had no signs of bleeding disorders. Clotting analysis performed in both twins revealed a markedly prolonged partial thromboplastin time (>100 s). The factor IX levels were below 2%. In order to detect mutations, a general screen using the polymerase chain reaction (PCR) followed by single strand conformation polymorphism (SSCP) analysis of the PCR products have been performed. PCR products have been cut into smaller fragments using restriction endonucleases (RE) for an in-depth SSCP screen. A general screen for gross abnormalities in the factor IX gene including deletions, insertions and rearrangements was performed by Southern blot analysis of RE-digests of genomic DNA using the factor IX cDNA as a hybridization probe. Furthermore, we screened for mutations in the CG dinucleotides comprising part of RE-recognition sequences (exon 1, 2, 3, 4, 5, and 8). By all methods applied herein, no mutations have been detected in these twins. On the basis of our results the hemophilia B of these twins might be explained by extreme non-random lyonization.

* Presented in part at the ISTH Congress New York, 1993


 
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