Abstract
Hemophilia A is the commonest inherited coagulation defect in human beings, whereas congenital hypofibrinogenemia is a much rarer disease. Occurrence of these two inherited diseases in the same family has not been reported so far. Younger sibling of a known case of Hemophilia A presented with recurrent, spontaneously occurring echymotic spots having prolonged PT, APTT, TT and very low absolute fibrinogen level with normal factor VIII level ultimately diagnosed as a case of congenital hypofibrinogenemia.
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Leeners JV, Mossakowski J, Kayser S. Case report of congenital afibrinogenemia. Klin Pediatr 1995; 207: 34–35.
Awasthy N, Aggarwal KC et al. Case report of congenital afibrinogenemia. Indian Pediatrics 2004;41:185–187.
Hilgartner MW, Corrigan JJ. Coagulation disorders. in Miller DR, Baehner RL eds. Blood Diseases of Infancy and Childhood, ed 7. St. Louis, Mosby, 1995;924–986.
Khalid F, Toumi NH, Bouguerra F et al. Genetic study of congenital afibrinogenemia: review of 12 cases. Ann Pediatr 1999;38:461–467.
Mammen EF. Fibrinogen abnormalities. Semin Thromb Hemost 1988, 9: 1–6.
Al Mondhiry H, Ehman WC. Congenital afibrinogenemia. Am J Hematol 1994; 46: 343–347.
Montgomery RR, Scot JP. Hemostasis: Disease of the fluid phase. In Nathan DG, Oski FA, eds. Hematology of Infancy and Childhood, 4th ed. Philadelphia, W.B. Saunders Company, 1993; 1605–1650.
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Basu, B. Hemophilia A and congenital hypofibrinogenemia: A rare association in same family. Indian J Pediatr 77, 206–207 (2010). https://doi.org/10.1007/s12098-009-0267-y
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DOI: https://doi.org/10.1007/s12098-009-0267-y