Chapter 6 Flashcards
Mutation in what gene causes hemophilia?
in gene for face VIII or factor IX (Christmas factor) of coagulation factors
define coagulation
clotting of blood
formula to make a clot
prothrombin—thrombin—fibrinogen—fibrin + blood cells = clot
What are the two forms of hemophilia?
A and B
What is the most common severe inherited coagulation disorder?
Hemophilia A (1 in 5000 males)
What is hemophilia A caused by?
deficiency of factor VIII which together with factor IX plays role in activation of prothrombin to thrombin
What type of genetic disorder is Hemophilia A?
X-linked recessive genetic disorder
What is hemophilia B caused by?
lack of functional clotting in factor IX (Christmas disease)
What type of genetic disorder is Hemophilia B?
X-linked recessive
What type of genetic disorder causes Hemophilia C?
autosomal genetic disorder involves lack of clotting of factor XI- not completely recessive
Symptoms of hemophilia
depends on severity- prolonged blooding after injury/surgery, bleeding in weight bearing joints or muscle, collection of blood under skin, nose bleeds, excessive menses
Can males be carriers of hemophilia A?
NO- X linked recessive
is hemophilia C sex linked?
NO
Will a female with hemophilia definitely pass it to their son?
YES
Example of co-dominance
ABO blood type
