[Clinical and molecular-biological study of a May-Hegglin anomaly family].
OBJECTIVE
To study the changes of platelet in May-Hegglin anomaly (MHA) and the molecular pathogenesis mechanism.


METHODS
Peripheral blood was drawn from the MHA proband, her father and her uncle. Platelet count and morphology were examined by automatic blood cell counter and microscopy, respectively. The platelet membrane protein was examined by flow cytometry. Membrane antibodies were determined by ELISA. PCR was used to amplify the exons 25, 31 approximately 32, 38 and 40 of the MYH 9 gene in the MHA patient and her diseased father. Furthermore, PCR products were sequenced, a specific point mutation was identified and inclusions (Dohle's body) in the neutrophil was detected by indirect immunofluorescence technique.


RESULTS
It was proved that in MHA patients, platelet count was higher by cell counter than by microscope (P < 0.01). Giant platelet was 94% but platelet membrane proteins (CD41, CD61, CD42A, CD42b) were in normal range. Membrane antibodies was undetectable. An A5521G mutation (GAG-->AAG) in the exon 38 was found in the proband and her diseased father, resulting in a characteristic change of NMMHC-A1841 (Glutamic acid-->Arginine), which was not found in other members of the family and in normal controls. Spindle-like inclusions with fluorescence were clearly displayed in neutrophil cytoplasm.


CONCLUSIONS
The molecular pathogenesis mechanism of May-Hegglin anomaly is the mutation in MYH 9 gene.
Shao
Xiu-ru
XR
Institute of Hematology & Oncology, Harbin 150010, China.
Li
Jia-zeng
JZ
Ma
Jun
J
Zhan
Zhao-min
ZM
Liang
Hong
H
She
Xi-nan
XN
Lu
Hai-ling
HL
Wang
Lai-ci
LC
Jia
Chui-ming
CM
Wu
Li-jie
LJ
Jin
Ming-hua
MH
Chen
Li-jun
LJ
D000328:Adult; D001483:Base Sequence; D001792:Blood Platelets / Q000378:metabolism / Q000473:pathology; D004252:DNA Mutational Analysis; D004797:Enzyme-Linked Immunosorbent Assay; D005260:Female; D005434:Flow Cytometry; D006098:Granulocytes / Q000378:metabolism / Q000473:pathology; D006801:Humans; D002479:Inclusion Bodies / Q000378:metabolism / Q000473:pathology; D008297:Male; D020409:Molecular Motor Proteins / Q000235:genetics*; D009154:Mutation; D018995:Myosin Heavy Chains / Q000235:genetics*; D010375:Pedigree; D010976:Platelet Count; D010980:Platelet Membrane Glycoproteins / Q000378:metabolism; D013921:Thrombocytopenia / Q000097:blood / Q000235:genetics* / Q000473:pathology
C103814:MYH9 protein, human; D020409:Molecular Motor Proteins; D010980:Platelet Membrane Glycoproteins; D018995:Myosin Heavy Chains