Prekallikrein deficiency due to homozygous KLKB1(+) mutation c.444_445insT (p.Ser151PhefsTer34)
Reema Miria Abraham
Department of Hematology, All India Institute of Medical Sciences (AIIMS), New Delhi, India
Search for more papers by this authorCorresponding Author
Ganesh Kumar Viswanathan
Department of Hematology, All India Institute of Medical Sciences (AIIMS), New Delhi, India
Correspondence
Ganesh Kumar Viswanathan, Room No: 206, New Private Ward, Department of Hematology, All India Institute of Medical Sciences (AIIMS), New Delhi-110029, India.
Email: [email protected]
Search for more papers by this authorJasmita Dass
Department of Hematology, All India Institute of Medical Sciences (AIIMS), New Delhi, India
Search for more papers by this authorRishi Dhawan
Department of Hematology, All India Institute of Medical Sciences (AIIMS), New Delhi, India
Search for more papers by this authorMukul Aggarwal
Department of Hematology, All India Institute of Medical Sciences (AIIMS), New Delhi, India
Search for more papers by this authorPradeep Kumar
Department of Hematology, All India Institute of Medical Sciences (AIIMS), New Delhi, India
Search for more papers by this authorTulika Seth
Department of Hematology, All India Institute of Medical Sciences (AIIMS), New Delhi, India
Search for more papers by this authorManoranjan Mahapatra
Department of Hematology, All India Institute of Medical Sciences (AIIMS), New Delhi, India
Search for more papers by this authorReema Miria Abraham
Department of Hematology, All India Institute of Medical Sciences (AIIMS), New Delhi, India
Search for more papers by this authorCorresponding Author
Ganesh Kumar Viswanathan
Department of Hematology, All India Institute of Medical Sciences (AIIMS), New Delhi, India
Correspondence
Ganesh Kumar Viswanathan, Room No: 206, New Private Ward, Department of Hematology, All India Institute of Medical Sciences (AIIMS), New Delhi-110029, India.
Email: [email protected]
Search for more papers by this authorJasmita Dass
Department of Hematology, All India Institute of Medical Sciences (AIIMS), New Delhi, India
Search for more papers by this authorRishi Dhawan
Department of Hematology, All India Institute of Medical Sciences (AIIMS), New Delhi, India
Search for more papers by this authorMukul Aggarwal
Department of Hematology, All India Institute of Medical Sciences (AIIMS), New Delhi, India
Search for more papers by this authorPradeep Kumar
Department of Hematology, All India Institute of Medical Sciences (AIIMS), New Delhi, India
Search for more papers by this authorTulika Seth
Department of Hematology, All India Institute of Medical Sciences (AIIMS), New Delhi, India
Search for more papers by this authorManoranjan Mahapatra
Department of Hematology, All India Institute of Medical Sciences (AIIMS), New Delhi, India
Search for more papers by this authorCONFLICT OF INTEREST
The authors declare that they have no competing interest.
Open Research
DATA AVAILABILITY STATEMENT
The data that support the findings of this study are available from the corresponding author upon reasonable request.
REFERENCES
- 1Gindele 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.
- 2Maak 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.
- 3Riano 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.
10.1177/23247096211012187 Google Scholar
- 4Nakao 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.
- 5Bojanini 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.
10.1155/2012/723204 Google Scholar
- 6Girolami A, Ferrari S, Cosi E, Girolami B. Increased prevalence of reported cases of congenital prekallikrein deficiency among African Americans as compared with the general population of the United States. Clin Appl Thromb. 2020; 1(26): 107602962091830.
- 7Adenaeuer A, Ezigbo ED, Fawzy Nazir H, et al. c.451dupT in KLKB1 is common in Nigerians, confirming a higher prevalence of severe prekallikrein deficiency in Africans compared to Europeans. J Thromb Haemost. 2021; 19(1): 147-152.
- 8Entes K, Laduca FM, Tourbaf KD. Fletcher factor deficiency, source of variations of the activated partial thromboplastin time test. Am J Clin Pathol. 1981; 75(4): 626-628.
- 9Asmis LM, Sulzer I, Furlan M, Lämmle B. Prekallikrein deficiency: the characteristic normalization of the severely prolonged aPTT following increased preincubation time is due to autoactivation of factor XII. Thromb Res. 2002; 105(6): 463-470.
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