Hemophilia A and congenital hypofibrinogenemia: a rare association in same family.
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.
Basu
Biswanath
B
Institute of Medical Science, Banaras Hindu University, Varanasi, Uttar Pradesh, India. basuv3000@yahoo.co.in
D002675:Child, Preschool; D005340:Fibrinogen / Q000235:genetics* / Q000378:metabolism*; D006467:Hemophilia A / Q000150:complications* / Q000235:genetics*; D006801:Humans; D008297:Male
D005340:Fibrinogen