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My Daughter Keeps Having Patechia And Hip Bleeds (not Frequently
Question: my daughter keeps having patechia and hip bleeds (not frequently but enough). what should I do? UNC took labs and never called us back. her appt was canceled bc of an emergency.
Brief Answer:
The symptoms and lab reports are likely to be suggestive of Hemophilia B
Detailed Answer:
Hello,
Thanks for posting your query on 'Ask A Doctor' service.
The symptoms of petechiae and bleeding into hip are suggestive of platelet and / or clotting factor disorder.
The lab report shows there is decreased factor IX activity and an increase in APTT.
APTT is a parameter that is prolonged in the deficiency of factors of the extrinsic pathway.
Factor IX is involved in the extrinsic pathway.
Factor IX activity is decreased in Hemophilia B or Christmas disease.
I suggest you get Factor IX assay to know Factor IX quantitatively.
In case there is a reduction in the quantity of Factor IX, recombinant Factor IX needs to be administrated.
Hemophilia B is a sex-linked recessive disorder thus, there is a chance of transmission of the defective gene to your daughter's children.
Thus, genetic counseling will also be required.
In case you have more queries, I will be glad to answer.
Thanks and take care
Dr. Shailja Puri
The symptoms and lab reports are likely to be suggestive of Hemophilia B
Detailed Answer:
Hello,
Thanks for posting your query on 'Ask A Doctor' service.
The symptoms of petechiae and bleeding into hip are suggestive of platelet and / or clotting factor disorder.
The lab report shows there is decreased factor IX activity and an increase in APTT.
APTT is a parameter that is prolonged in the deficiency of factors of the extrinsic pathway.
Factor IX is involved in the extrinsic pathway.
Factor IX activity is decreased in Hemophilia B or Christmas disease.
I suggest you get Factor IX assay to know Factor IX quantitatively.
In case there is a reduction in the quantity of Factor IX, recombinant Factor IX needs to be administrated.
Hemophilia B is a sex-linked recessive disorder thus, there is a chance of transmission of the defective gene to your daughter's children.
Thus, genetic counseling will also be required.
In case you have more queries, I will be glad to answer.
Thanks and take care
Dr. Shailja Puri
Above answer was peer-reviewed by :
Dr. Arnab Banerjee
these are her hip bleeds two years apart. is this common in hemophilia b then? her legas always hurt her as well.
Brief Answer:
Hemophilia needs to be ruled out even though hip bleeds were rare.
Detailed Answer:
Hello and welcome again,
Even though the episodes of the hip bleed are rare, the possibility of Hemophilia has to be ruled out.
Bleeding in the absence of any history of trauma does not occur normally.
These kinds of bleeding suggest an underlying disorder of the coagulation factor.
Thanks and take care
Dr. Shailja Puri
Hemophilia needs to be ruled out even though hip bleeds were rare.
Detailed Answer:
Hello and welcome again,
Even though the episodes of the hip bleed are rare, the possibility of Hemophilia has to be ruled out.
Bleeding in the absence of any history of trauma does not occur normally.
These kinds of bleeding suggest an underlying disorder of the coagulation factor.
Thanks and take care
Dr. Shailja Puri
Note: Do you have more questions on diagnosis or treatment of blood disorders? Ask An Expert/ Specialist Now
Above answer was peer-reviewed by :
Dr. Arnab Banerjee
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