Genetic Counselor
Case #100011H – Stacy Harris
Disorder ? - Hemophilia
What is Hemophilia ? - Hemophilia is a rare bleeding disorder in which the blood doesn't clot normally.
What causes Hemophilia ?
Hemophilia A - lack of enough clotting factor 8
Hemophilia B - lack of enough clotting factor 9
Hemophilia C - lack of clotting factor 11 or Hemophilia is inherited
Pattern of Inheritance - The genes associated with these conditions are located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell causes the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder.
What is the role of genetic testing ? - Genetic testing for Hemophilia A&B is to check for mutations within the genes. DNA testing would be the most accurate test for identifying carriers. A blood sample from a male family member with hemophilia is checked first. Then, a blood sample from the woman that is asking for is obtained and her DNA is checked for the mutation also. Or a pedigree may be used to identify people withing the families who may carry hemophilia. Also, a woman who have a family history of hemophilia may have her fetus tested during pregnancy for the disease.
Symptoms ? - sometimes lengthy bleeding excessive bruising swollen,painful joints swollen,tender muscles excessive bleeding from the gums,tongues or mouth following injury severe bleeding after tooth extractions sever bleeding after injuries
Prognosis ? - Able to live a relatively normal life
Severity Conditions ? - bleeding following an injury may frequent spontaneous bleeding episodes often into their joints and muscles
Brief description – Hemophilia is a rare bleeding disorder where the blood doesn't clot normally. It's caused by an issue with a genetic material in the body. This genetic material is called DNA. DNA controls
Disorder ? - Hemophilia
What is Hemophilia ? - Hemophilia is a rare bleeding disorder in which the blood doesn't clot normally.
What causes Hemophilia ?
Hemophilia A - lack of enough clotting factor 8
Hemophilia B - lack of enough clotting factor 9
Hemophilia C - lack of clotting factor 11 or Hemophilia is inherited
Pattern of Inheritance - The genes associated with these conditions are located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell causes the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder.
What is the role of genetic testing ? - Genetic testing for Hemophilia A&B is to check for mutations within the genes. DNA testing would be the most accurate test for identifying carriers. A blood sample from a male family member with hemophilia is checked first. Then, a blood sample from the woman that is asking for is obtained and her DNA is checked for the mutation also. Or a pedigree may be used to identify people withing the families who may carry hemophilia. Also, a woman who have a family history of hemophilia may have her fetus tested during pregnancy for the disease.
Symptoms ? - sometimes lengthy bleeding excessive bruising swollen,painful joints swollen,tender muscles excessive bleeding from the gums,tongues or mouth following injury severe bleeding after tooth extractions sever bleeding after injuries
Prognosis ? - Able to live a relatively normal life
Severity Conditions ? - bleeding following an injury may frequent spontaneous bleeding episodes often into their joints and muscles
Brief description – Hemophilia is a rare bleeding disorder where the blood doesn't clot normally. It's caused by an issue with a genetic material in the body. This genetic material is called DNA. DNA controls