RT Book, Section
A1 Sivapalaratnam, Suthesh
A1 Rao, A. Koneti
A1 Ouwehand, Willem
A1 Freson, Kathleen
A2 Kaushansky, Kenneth
A2 Prchal, Josef T.
A2 Burns, Linda J.
A2 Lichtman, Marshall A.
A2 Levi, Marcel
A2 Linch, David C.
SR Print(0)
ID 1180468717
T1 Inherited Platelet Disorders
T2 Williams Hematology, 10e
YR 2021
FD 2021
PB McGraw-Hill Education
PP New York, NY
SN 9781260464122
LK accessmedicine.mhmedical.com/content.aspx?aid=1180468717
RD 2024/04/24
AB SUMMARYThis  chapter  describes  the  classification,  pathophysiology,  clinical  evaluation,  and  management  of  quantitative  and  qualitative  inherited  platelet  disorders.  Whereas  some  platelet  disorders  only  result  in  bleeding,  others  are  part  of  a  broader  clinical  syndrome.  Even  with  signs  of  bleeding,  there  is  a  large  variability  among  patients.  Bleeding  is  principally  evident  by  excessive  hemorrhage  at  mucocutaneous  sites,  ecchymoses,  petechiae,  epistaxis,  gingival  hemorrhage,  and  menorrhagia.  The  hereditary  platelet  disorders  can  be  classified  according  to  the  underlying  genetic  mutation  and  the  role  the  corresponding  protein  has  in  megakaryocyte  and  platelet  production  (Figs.  119–1  and  119–2).  Furthermore,  recommendations  on  how  and  when  to  use  genomic  analyses  and  deep  sequencing  in  the  diagnosis  of  possibly  novel  pathways  that  result  in  inherited  platelet  disorders  are  provided.1,2