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A 3-week-old Caucasian female presented with severe unprovoked parenchymal cerebral haemorrhage. Her plasma factor VII (FVII) activity was <0.01 units/ml. FVII activities for her mother and sister were 0.65 units/ml and 0.51 units/ml, respectively, while her father's level was normal. These results indicated that the mother was heterozygous for a non-functional F7 gene that had also been inherited by the proband's sister. The proband's severe FVII deficiency was caused by a new mutation in her paternal F7 gene coupled with the inheritance of the non-functional maternal F7 gene. DNA sequence analysis revealed that the proband had apparent homozygosity for a novel single point mutation (g.3907G >A) changing the codon for Glu29 to Lys (E29K); neither parent had the E29K mutation. Because of the unlikelihood that the proband was homozygous for two identical new point mutations, the DNA sequence abnormality was more likely to have arisen from a single mutated gene on one allele and a F7 gene deletion on the other allele. Real time polymerase chain reaction (PCR) analysis confirmed that the proband had inherited a gene deletion that was present in the maternal side of the family. Subsequent clotting assays and real time PCR revealed that the maternal deletion also included the closely linked F10 gene.
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http://dx.doi.org/10.1111/j.1365-2141.2004.05296.x | DOI Listing |
J Pediatr Hematol Oncol
December 2024
Pediatrics Clinic, Bakirkoy Dr. Sadi Konuk Training and Research Hospital, University of Health Sciences, Istanbul, Turkey.
Background: Rare factor deficiency (RFD) is characterized by a deficiency of factor (F)I, FII, FV, FVII, FX, FXI, FXII, FXIII, or a combined deficiency of FV+FVIII or vitamin K-dependent factors. The prevalence of RFD ranges from 1/1,000,000 to 3,000,000. Combined deficiencies of vitamin K-related factors have been described in 30 families worldwide, and these patients can present with a wide range of clinical symptoms, from mucocutaneous bleeding to life-threatening symptoms such as central nervous system and gastrointestinal bleeding.
View Article and Find Full Text PDFRare bleeding disorders (RBDs) represent 3 to 5% of congenital bleeding disorders and are primarily inherited in an autosomal recessive manner, with increased prevalence in consanguineous populations. Clinically, RBDs can be accompanied by mild to severe bleeding episodes, often assessed using bleeding assessment tools (BATs) such as the International Society on Thrombosis and Hemostasis (ISTH)-BAT. However, the correlation between bleeding severity and coagulation factor activity levels remains inconsistent.
View Article and Find Full Text PDFHaemophilia
November 2024
Faculty of Medicine, Geneva, Switzerland.
Introduction: Rare coagulation disorders (RCDs) constitute an important health risk. Data on epidemiology, quality of life (QoL), access to care, and impact of the ongoing economic crisis on RCDs in Lebanon is limited.
Aim: We aimed to address these gaps by evaluating effect of the crisis on the management of RCDs.
Blood
December 2024
Division of Hematology and Hemostaseology, Department of Medicine I, Medical University of Vienna, Vienna, Austria.
Rev Med Chil
January 2024
Hospital Clínico Universidad de Chile, Santiago, Chile.
Tissue Factor-Factor VII complex is essential in coagulation activation. Congenital factor VII deficiency is a rare disorder that has an autosomal recessive inheritance. Clinical presentations are heterogeneous, ranging from asymptomatic carriers to severe bleeding phenotypes with factor VII replacement therapy requirements.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!