Bærer av hemofili B


Engelsk navn: Bleeding disorder in hemophilia B carriers


Definisjon

A rare bleeding disorder in association with carrier mutations in the <i>F9</i> gene (Xq27.1) encoding coagulation factor IX (FIX), with a biological activity of FIX &#8805;40 IU/dL and characterized clinically by abnormal bleeding as a result of minor injuries or following trauma, surgery or tooth extraction. Spontaneous hemorrhages may occur occasionally. Heavy menstrual bleeding is the most frequent type of bleed in the carriers.

Fra Orphanet

ORPHA: 177929
Klassifiseringsnivå: Subtype of disorder
ICD-10: D67

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