X-linked recessive disease in male with clotting defect is-
Ans. is 'a' i.e., Hemophilia A Hemophila A o Hemophilia A is due to deficiency offactor VIII. o Hemophilia A is inherited as an X-linked recessive trait. o Factor VIII is an intrinsic pathway component required for activation of factor X. o Clinical manifestations are due to defect in coagulation system : ? i) Large post traumatic ecchymoses or hematoma. ii) Prolonged bleeding after a laceration or any form of surgical procedure. iii) Bleeding into weight bearing joints. o Petechiae are characteristically absent (in contrast to platelet dysfunction where bleeding occur from small vessels of skin and mucous membrane, e.g., petechiae). o Laboratory findings T PTT Normal PT Normal BT Normal platelet counts Remember o Hemophilia B (christmas disease) is due to deficiency of factor IX. o Hemophilia B has clinical features and laboratory findings similar to hemophilia A.
Hemophilia A
IT
Von-Willebrand disease
None