New Missense Mutation His2026Arg in the Factor VIII Gene Was Revealed in Two Female Patients with Clinical Manifestation of Hemophilia A

Surin, V. L.; Salomashkina, V. V.; Pshenichnikova, O. S.; Perina, Farida; Bobrova, O. N.; Ershov, V I; Budanova, D. A.; Gadaev, I. Yu.; Konyashina, N. I.; Zozulya, Nadezhda

doi:10.1134/s102279541806011x

Cited by 2 publications

(2 citation statements)

References 26 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Compound heterozygosity (Table 3B, 4B) has been observed due to inheritance of a different haemophilia allele from each parent in the same gene 31 . More often, compound heterozygosity has resulted from the inheritance of one haemophilia allele and a de novo mutation on the X chromosome received from the other parent 27,32,34,35,40 . In two instances, the de novo variant was a deletion of all or part of the F8 gene; this could be distinguished from homozygosity only by assessment of gene dose by techniques such as Multiplex Ligation‐Dependent Probe Amplification (MLPA ® ) 27,31 .…”

Section: Classification Of Women and Girls With Haemophiliamentioning

confidence: 99%

“…All three women successfully underwent immune tolerance induction therapy. Two additional women heterozygous for F8 variants developed FVIII inhibitors later in life, but neither had a history of excessive bleeding, low FVIII or treatment prior to inhibitor development; they may represent acquired haemophilia 40,110 . Development of an inhibitor in a woman with one normal allele is unexpected and may relate to the type of product used.…”

Section: Symptoms Of Haemophilia In Women and Girlsmentioning

confidence: 99%

See 1 more Smart Citation

Genetic causes of haemophilia in women and girls

Miller

Bean

2020

Haemophilia

View full text Add to dashboard Cite

Women and girls reported as “haemophilic females” may have complex genetic causes for their haemophilia phenotype. In addition, women and girls may have excessive bleeding requiring treatment simply because they are heterozygous for haemophilia alleles. While severe and moderate haemophilia are rare in females, 16% of patients with mild haemophilia A and almost one‐quarter of those with mild haemophilia B seen in U.S. haemophilia treatment centres are women and girls. A phenotypic female with a low level of factor VIII or factor IX may be classified into one of the following categories of causality: homozygosity (two identical haemophilia alleles), compound heterozygosity (two different haemophilia alleles), hemizygosity (one haemophilia allele and no normal allele), heterozygosity (one haemophilia allele and one normal allele), genetic causes other than haemophilia and non‐genetic causes. Studies required for classification may include coagulation parameters, F8 or F9 sequencing, F8 inversion testing, multiplex ligation‐dependent probe amplification, karyotyping and X chromosome inactivation studies performed on the patient and parents. Women and girls who are homozygous, compound heterozygous or hemizygous clearly have haemophilia, as they do not have a normal allele. Heterozygous women and girls with factor levels below the haemostatic range also meet the definitions used for haemophilia treatment.

show abstract

Section: Classification Of Women and Girls With Haemophiliamentioning

confidence: 99%

Section: Symptoms Of Haemophilia In Women and Girlsmentioning

confidence: 99%