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. 2022 Jun;44(3):e132-e134.
doi: 10.1111/ijlh.13773. Epub 2021 Nov 30.

Prekallikrein deficiency due to homozygous KLKB1(+) mutation c.444_445insT (p.Ser151PhefsTer34)

Reema Miria Abraham  1 , Ganesh Kumar Viswanathan  1 , Jasmita Dass  1 , Rishi Dhawan  1 , Mukul Aggarwal  1 , Pradeep Kumar  1 , Tulika Seth  1 , Manoranjan Mahapatra  1
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Prekallikrein deficiency due to homozygous KLKB1(+) mutation c.444_445insT (p.Ser151PhefsTer34)

Reema Miria Abraham et al. Int J Lab Hematol. 2022 Jun.
No abstract available

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References

REFERENCES

    1. Gindele R, Kerényi A, Kállai J, et al. Resolving differential diagnostic problems in von willebrand disease, in fibrinogen disorders, in prekallikrein deficiency and in hereditary hemorrhagic telangiectasia by next-generation sequencing. Life. 2021;11(3):202.
    1. Maak B, Kochhan L, Heuchel P, Jenderny J. Severe prekallikrein deficiency due to a compound heterozygosis in the KLKB1-gene. Hamostaseologie. 2009;29(2):187-189.
    1. Riano I, Prasongdee K. A rare cause of isolated prolonged activated partial thromboplastin time: an overview of prekallikrein deficiency and the contact system. J Investig Med High Impact Case Rep. 2021;9:232470962110121.
    1. Nakao T, Yamane T, Katagami T, et al. Severe prekallikrein deficiency due to a homozygous Trp499Stop nonsense mutation. Blood Coagul Fibrinolysis. 2011;22(4):337-339.
    1. Bojanini EU, Loaiza-Bonilla A, Pimentel A. Prekallikrein deficiency presenting as recurrent cerebrovascular accident: case report and review of the literature. Case Rep Hematol. 2012;2012:1-3.

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