PMID- 12217806
OWN - NLM
STAT- MEDLINE
DCOM- 20040106
LR  - 20220129
IS  - 0390-6078 (Print)
IS  - 0390-6078 (Linking)
VI  - 87
IP  - 9
DP  - 2002 Sep
TI  - Defective expression of GPIb/IX/V complex in platelets from patients with 
      May-Hegglin anomaly and Sebastian syndrome.
PG  - 943-7
AB  - BACKGROUND AND OBJECTIVES: May-Hegglin anomaly (MHA) and Sebastian syndrome (SBS) 
      are inherited macrothrombocytopenias with D hle-like bodies in leukocytes. 
      MHA-SBS are due to mutations of the gene (MYH9) for the heavy chain of non-muscle 
      myosin IIA (NMMHC-IIA), the only myosin II expressed in platelets. The bleeding 
      tendency is often more severe than expected on the basis of platelet count, but 
      no abnormality of platelet function has been identified. To characterize platelet 
      abnormalities deriving from MYH9 mutations better, we studied surface 
      glycoproteins (GPs) in platelets from MHA-SBS patients. DESIGN AND METHODS: Eight 
      patients from 4 unrelated families were studied. Platelet surface GPs were 
      studied by flow cytometry in both the whole platelet population and 
      subpopulations of platelets identified according to their size. RESULTS: Flow 
      cytometry identified a defect of the GPIb/IX/V complex in the whole platelet 
      population in 7 of 8 patients. Moreover, in all patients the subpopulation of 
      large platelets had defective expression of this complex. INTERPRETATION AND 
      CONCLUSIONS: These findings indicate that MYH9 mutations may be responsible for 
      reduced surface expression of GPIb/IX/V. This defect could contribute to the 
      bleeding tendency of these patients. The identification of a GPIb/IX/V defect in 
      MHA-SBS platelets raises the question of the differential diagnosis from 
      heterozygous Bernard-Soulier syndrome.
FAU - Di Pumpo, Michele
AU  - Di Pumpo M
AD  - Department of Internal Medicine, IRCCS S. Matteo Universit di Pavia, Italy.
FAU - Noris, Patrizia
AU  - Noris P
FAU - Pecci, Alessandro
AU  - Pecci A
FAU - Savoia, Anna
AU  - Savoia A
FAU - Seri, Marco
AU  - Seri M
FAU - Ceresa, Iride F
AU  - Ceresa IF
FAU - Balduini, Carlo L
AU  - Balduini CL
LA  - eng
GR  - GP0019Y01/TI_/Telethon/Italy
GR  - TGM06S01/TI_/Telethon/Italy
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Italy
TA  - Haematologica
JT  - Haematologica
JID - 0417435
RN  - 0 (MYH9 protein, human)
RN  - 0 (Molecular Motor Proteins)
RN  - 0 (Platelet Glycoprotein GPIb-IX Complex)
RN  - EC 3.6.1.- (Nonmuscle Myosin Type IIA)
RN  - EC 3.6.4.1 (Myosin Heavy Chains)
SB  - IM
CIN - Haematologica. 2002 Sep;87(9):897-8. PMID: 12217798
MH  - Blood Platelet Disorders/genetics/*metabolism/*pathology
MH  - Blood Platelets/*metabolism/pathology
MH  - Female
MH  - Flow Cytometry
MH  - Genetic Predisposition to Disease
MH  - Humans
MH  - Leukocytes/metabolism/pathology
MH  - Male
MH  - Molecular Motor Proteins/genetics
MH  - Mutation
MH  - Myosin Heavy Chains/genetics
MH  - Nonmuscle Myosin Type IIA/genetics
MH  - Platelet Glycoprotein GPIb-IX Complex/*metabolism
MH  - Syndrome
MH  - Thrombocytopenia/*metabolism/pathology
EDAT- 2002/09/10 10:00
MHDA- 2004/01/07 05:00
CRDT- 2002/09/10 10:00
PHST- 2002/09/10 10:00 [pubmed]
PHST- 2004/01/07 05:00 [medline]
PHST- 2002/09/10 10:00 [entrez]
PST - ppublish
SO  - Haematologica. 2002 Sep;87(9):943-7.