Severe haemophilia A in a female: a compound heterozygote with nonrandom X‐inactivation
- 1 November 1999
- journal article
- case report
- Published by Wiley in Haemophilia
- Vol. 5 (6) , 445-449
- https://doi.org/10.1046/j.1365-2516.1999.00352.x
Abstract
We report a case of severe haemophilia A (de novo on her paternally derived X chromosome. In addition, the patient’s paternally derived X chromosome had been preferentially inactivated in 95+% of her somatic cells. The patient’s mother, who was clinically unaffected, carried an intron 22 inversion as well and also showed nonrandom X-inactivation. The patient’s mother had a brother with severe haemophilia A. It is therefore likely that the mother’s inversion was on her maternally derived X chromosome. Since she was unaffected, it is likely that her inversion-bearing X was the one that was preferentially inactivated.Keywords
This publication has 18 references indexed in Scilit:
- Analysis of factor VIII gene inversion mutations in 166 unrelated haemophilia A families: frequency and utility in genetic counsellingHaemophilia, 1996
- Severe haemophilia A in a female resulting from two de novo factor VIII mutationsBritish Journal of Haematology, 1995
- Investigation of the factor VIII intron 22 repeated region (int22h) and the associated inversion junctionsHuman Molecular Genetics, 1995
- Interaction of incontinentia pigmenti and factor VIII mutations in a female with biased X inactivation, resulting in haemophilia.Journal of Medical Genetics, 1993
- Severe Hemophilia A in a Female by Cryptic Translocation: Order and Orientation of Factor VIII within Xq28Genomics, 1993
- Concomitant Turner syndrome and hemophilia A in a female with an idic(X)(p11) heterozygous at locus DXS52Cytogenetic and Genome Research, 1992
- Nonrandom X chromosome DNA methylation patterns in hemophiliac females.Journal of Clinical Investigation, 1989
- Hemophilia A in a female: Use of factor VIII antigen levels as a diagnostic aidThe Journal of Pediatrics, 1974
- The Occurrence of Homozygous Hemophilia in the FemaleActa Haematologica, 1971
- Hemophilia A in chromosomal female subjectsThe Journal of Pediatrics, 1969