CC BY-NC-ND 4.0 · Journal of Fetal Medicine 2023; 10(02): 073-075
DOI: 10.1055/s-0043-57020
Case Report

Multiple Neonatal Deaths and Alexander's Disease: A Case Report

Renu Makwana
1   Department of Obstetrics and Gynecology, Vasundhara Hospital, Nandanvan, Jodhpur, Rajasthan, India
Prateek Makwana
1   Department of Obstetrics and Gynecology, Vasundhara Hospital, Nandanvan, Jodhpur, Rajasthan, India
2   LifeCell International Pvt Ltd, Chennai, Tamil Nadu, India
Neeraja Reddy Malleda
2   LifeCell International Pvt Ltd, Chennai, Tamil Nadu, India
› Author Affiliations


Factor VII deficiency, also known as Alexander's disease, is a rare bleeding disorder due to homozygous or compound heterozygous mutations in the F7 gene and is inherited in an autosomal recessive manner. The condition manifests as a wide range of symptoms, based on the severity of the disease, and may appear at any age. While family and personal histories are essential for identification of the disorder, there is usually no history due to the autosomal recessive nature of the condition. Here, we report a case of factor VII deficiency in a family that was identified due to multiple neonatal deaths and the importance of genetic counseling and prenatal diagnosis for such scenarios.

Publication History

Article published online:
12 May 2023

© 2023. Society of Fetal Medicine. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (

Thieme Medical and Scientific Publishers Pvt. Ltd.
A-12, 2nd Floor, Sector 2, Noida-201301 UP, India

  • References

  • 1 Bernardi F, Mariani G. Biochemical, molecular and clinical aspects of coagulation factor VII and its role in hemostasis and thrombosis. Haematologica 2021; 106 (02) 351-362
  • 2 İnce Z, Bulut Ö, Tuğrul-Aksakal M, Ünüvar A, Devecioğlu Ö, Çoban A. Asymptomatic intracranial hemorrhage in a newborn with congenital factor VII deficiency and successful treatment with recombinant activated factor VII. Turk J Pediatr 2018; 60 (05) 562-565
  • 3 Suzuki K, Sugawara T, Ishida Y, Suwabe A. Compound heterozygous mutations (p.Leu13Pro and p.Tyr294*) associated with factor VII deficiency cause impaired secretion through ineffective translocation and extensive intracellular degradation of factor VII. Thromb Res 2013; 131 (02) 166-172
  • 4 Farah R, Al Danaf J, Braiteh N. et al. Life-threatening bleeding in factor VII deficiency: the role of prenatal diagnosis and primary prophylaxis. Br J Haematol 2015; 168 (03) 452-455
  • 5 Landau D, Rosenberg N, Zivelin A, Staretz-Chacham O, Kapelushnik J. Familial factor VII deficiency with foetal and neonatal fatal cerebral haemorrhage associated with homozygosis to Gly180Arg mutation. Haemophilia 2009; 15 (03) 774-778
  • 6 Giansily-Blaizot M, Aguilar-Martinez P, Mazurier C. et al. Prenatal diagnosis of severe factor VII deficiency using mutation detection and linkage analysis. Br J Haematol 2001; 112 (01) 251-252
  • 7 Ariffin H, Millar DS, Cooper DN, Chow T, Lin HP. Prenatal exclusion of severe factor VII deficiency. J Pediatr Hematol Oncol 2003; 25 (05) 418-420
  • 8 Komlosi K, Diederich S, Fend-Guella DL. et al. Targeted next-generation sequencing analysis in couples at increased risk for autosomal recessive disorders. Orphanet J Rare Dis 2018; 13 (01) 23 DOI: 10.1186/s13023-018-0763-0.
  • 9 Berisha SZ, Shetty S, Prior TW, Mitchell AL. Cytogenetic and molecular diagnostic testing associated with prenatal and postnatal birth defects. Birth Defects Res 2020; 112 (04) 293-306