A rare occurrence of haemophilia A in a female due to compound heterozygosity of a <i>de novo</i> missense variant (presenting as pseudohomozygous) in <i>F8</i> gene with Xq28 deletion inherited from mother-Reference-Cited by-同舟云学术

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A rare occurrence of haemophilia A in a female due to compound heterozygosity of a de novo missense variant (presenting as pseudohomozygous) in F8 gene with Xq28 deletion inherited from mother

Published:2022-06-30 Issue:6 Volume:44 Page:
ISSN:1751-5521
Container-title:International Journal of Laboratory Hematology
language:en
Short-container-title:Int J Lab Hematology

Author:

Sharma Ritika¹,Jamwal Manu¹,Senee Hari Kishan¹,Kumar Narender¹^ORCID,Bansal Deepak²,Trehan Amita²,Ahluwalia Jasmina¹,Das Reena¹^ORCID

Affiliation:

1. Department of Hematology Postgraduate Institute of Medical Education and Research Chandigarh India

2. Department of Pediatrics (Hematology‐Oncology Unit) Postgraduate Institute of Medical Education and Research Chandigarh India

Publisher

Wiley

Subject

Biochemistry (medical),Clinical Biochemistry,Hematology,General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ijlh.13916

Reference11 articles.

1. A new hemophilia carrier nomenclature to define hemophilia in women and girls: Communication from the SSC of the ISTH

2. Clinical and genetic findings in five female patients with haemophilia a: identification of a novel missense mutation, p.Phe2127Ser;Martín‐Salces M;Thromb Haemost,2010

3. Molecular mechanisms underlying hemophilia A phenotype in seven females

4. Genetic causes of haemophilia in women and girls

5. Normal range of bleeding scores for the ISTH-BAT: adult and pediatric data from the merging project

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