Combined Factor V and VIII Deficiency with LMAN1 Mutation: A Report of 3 Saudi Siblings

18 September 2022 : Case report Saudi Arabia

Challenging differential diagnosis, Rare disease

Shahad Alsheikh^1AEF*, Rizam Alghamdi^1AEF, Ahlam Alqatari^12ABD, Abdullah Alfareed^12ABD, Mona AlSaleh^12ABDE

DOI: 10.12659/AJCR.937312

Am J Case Rep 2022; 23:e937312

Background Case Reports Discussion Conclusions References:

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Table 1. Laboratory findings of the 3 patients.

Findings	Normal ranges*	Patient X	Patient Y	Patient Z
PT (s)	12.9–15.9	20.3	19.4	21.6
aPTT (s)	25.6–42.3	74.7	81.9	90
FV (%)	70–120	17	14	13
FVIII (%)	60–150	17	16	13
^* Reference ranges listed above correspond to the reference ranges utilized in our hospital’s laboratory.

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