MAY _ HEGGLIN ANOMALY-

fhe TurkishJournal of Pediatics 3t:167-171. t9B9
MAY _ HEGGLINANOMALY(A Presentation of a Family)
Ayge Gokalp MD**, Aynur Ojuz MD"*, Sadi Ttjrkay MD*"*
Ditara igajasrcStu MD***, Nuh Zafer Canturk""**
Key words:
May-Hegglin
anomally, mild-bleeding
disorder, Dohle bodv
The May-Hegglin
anomalyis a rareautosomaldominantdisordercharacterized
bv
the presenceof single,large,bizarre,cigar-shaped
plateletsand Dohlebodiesin
the leukocytes.
One thirdof the casesreportedhaveassociated
thrombocytopenia. Most patientswho have this disorderare asymptomaticor have a mild
bleedingdisorderl-3
May, who first describedthis disorderin 1909, noted the presenceof blue
inclusionbodiesin the cytoplasmof white bloodcells in association
with large
plateletsthat were in the peripheral
bloodsmearof an asymptomatic
girl.Similar
observations
were then reportedby Hegglinin 1945.The hereditary
natureof this
anomalywas clearlydefined in 1960, and less than 100 cases have been
describedto date3-6.
sincethis anomalyis rare,and becauseas far as we know, no caseshaveso far
not been i'cportedfrom Turkey,we thoughtthis familyworthy of presentation.
Case Report
The pedigreeof the reportedfamilyis presentedin Fig.1. The subject,lK, age 9,
was admittedto our clinic with a historyof intermittentnose-bleeds
and a
two-yearhistoryof recurrentpetechialrashon his extremities.He was the fifth
childof parentswho were not related.The subjecthad no remarkable
prenatal,
natalor postnatalhistories.His brother,motherand unclehadsimilarcomplaints.
on admissionthe patient'sgeneralconditionwas good.He weighed27 kg (7gilr
percentile)
and his heightwas -l32cm (bOthpercentile).
Bodytemperature,
heart
and respiratory
rate,and bloodpressurewere normal.He had a mild nose_bleed
and a discretepetechialrash on his shouldersand extremities.The liver and
spleenwere not palpated.The other physicalfindingswere all normal.
From the Departmento{ Pediatrics,CumhuriyetUniversityFacultyof Medicine,Sivas
AssociateProfessorof Pediatrics,CumhuriyetUniversityFacultyof M e d i c i n e .
R e s i d e n itn P e d i a t r i c sC, u m h u r i y eU
t n i v e r s i t yF a c u l t yo f M e d i c i n e .
M e d i c a lS t u d e n t ,C u m h u r i y eU
t n i v e r s i t yF a c u l t yo f M e d i c j n e .
168
. t K
,/
E o
I
o
Affected members
mO
o
Not examined, deceased
Not examined
Normal
Fig. 1: Familypedigree.
Laboratorystudiesrevearedthat the hemogrobin
was 12.gg/dr,hematocritvarue
37oh,Ieukocytecount 72OO/mm3,
and plateletcount 3g00olmm3.i;;;;,;;;
cigar-shapedor ellipticalplateletsand Dohle
bodies in the grunr,o.y,"s were
observedin the peripherarbrood
smear.Breeding
time (rvy)was6 min (normarto6
min),prothrombintime 14 sec (normalrange;11_14
sec),partial,f",r"rO"pfrriii
time 45 sec (normalrange:25-45sec)andclot retraction
was diminished(3 hours,
Benmari incubationmethod). The tourniquet test
and capiilaryfragiritywere
normal'Plateletaggregationand ristocetin-induced
agglutination
were within the
normar range. Erythrocytesedimentationrate
was 4 mm/h. Bone marrow
examination,riverand kidneyfunctiontests, serum
erectrorytes,
and chest_X_ray
were also normal.
-EK:
MK:
MK :
RK :
YK :
AK :
mother,age 41, sufferedfrom menorrhagia.
-attecteO.
brother,age 1g, was asymptomatic,but
brother,age 15, had a rifeJonghistoryof mirdepistaxis
and petechiarrash.
sister, age 12, was asymptomaticbut affected.
uncle, age 37, had a history of mild epistaxisand petechia.
grandfather,age 67. was asymptomatic,
but affected.
The family's data supportinga diagnosisof May-Heggrin
anomaryare shown in
Table l' Large,cigar-shapedplateletsand Dohle
boOiesare illustratedin Fig. 2.
TABLEl: FamilyDatasupportinga Diagnosis
of the May-Hegglin
Anomaly
Pati.nr
aee/vrs
rK($
Giant
svmptom
dno1;""flJo
flT::
I
--
"",l,li1Xil,r,,,.31",ifl.1ifl,rr
Slgliiif
fl,"J!o,"-
Ristocerin-induc
lg1-"1"-r
^.
Normal
Normarr
+
+
+
+
150,000
3
Normal
MK (18)
+
-
+
+
15o,0oo
4
Normal
MK (15)
DrminishedNormal
Normal
+
+
+
74,OOO
6.
Normal
Normal
Normal
Normat
YK (37)
ihed Normal
Normal
+
-
+
+
74,OOO
5
Normal
Normat
Np
+
+
-
150,000
4
Normat
NP
NP
NP
15o.0oo
1-6
Normal
Normal
Normal
Normal
EK(41)
AK (67)
Normal
.
ffiffi
4oo.ooo
NP: Not performed
ffi**ffi+ffi'
ruorrnai
Np
$
i
170
Fis. 2: Large,ellipticand bizarreplatelelttli ,?:*^Pdi"t
are seen in blood smearof propositus(Peroxloase''
Discussion
do not have bleeding
The majority of patients with May-Hegglinanomaly
In
incidentally'
In thisgroup,the diseaseentitymay be discovered
manifestations.
havebeenthe onlyspecificclinical
manifestations
somecases,mild hem6rrhagic
abnormality,most
is
problem. Even though thrombocytopenia a consistent
bleedinga'6'
fatients reported do not have significant
anomaly'howevera decreasein
plateletsurvivalis usuallynormalin May-Hegglin
presenceof a normal
platelets has been reported in some casesl'2'6'7.16"
indicates normal platelet
megakaryocytenumber in the marrow evaluation
production.|tiSpostu|atedthatimpairedandabnorma|megakaryocytefragmentaof the platelets2'since largerand
tion leadsto both number and size alterations
youngerp|ate|etsarethoughttobehemostatica||ySuperactivethanthesma||er
anoma|ydo not havesevereb|eeding
and o|der ones, patientsWith May-Hegglin
episodesa.
are found in the cytop|asmof the
ln this anoma|y,paIe-bluestaininginc|usions
monocytes;these RNA patchesare
neutrophils,eosinophils,basophilsand
first describedas an acquired
named D6hle bodies. D6hle bodies were
found in acute infectiousand toxic
phenomenonln scarlet fever and may be
that they disappearafter recoveryS'B'
orocessesand burns.lt was demonstrated
siblingshad mild bleedingsymptoms'All
In this familythe subiectand his three
had Dohle bodies and large' bizarre'
investigatedmembers of the kindred
cigar-shapedp|atelets.Exceptforthesubject,a|lofthema|sohadnormaIand
171
abnormalplateletson the blood smears. Four members of the familv
had
thrombocytopenia.
Among them, onry RK was asymptomatic,thoughshe had
diminishedclot retraction.The associationof thrombocytopenia,
diminishedclot
retractionand an asymptomaticstate may be seen
in May-Heggrinanomary.
Largeplateletsare also seen in the Bernard-soulier
syndrome,the Grayplatelet
syndrorneand genetic connectivetissue diseasesg.Bleeding
time, ristocetininducedagglutinationand plateletaggregationwere found
to be within normal
ranges in this family, thereby allowing us to distinguishthis
anomalyfrom the
Bernardsoulier and Gray plateletsyndromes.Thus, the presence
of increased
vesselfragilityobservedin this particularfamily may have
been due to a different
form of genetic connectivetissue disease.
Acknowledgement
We wish to thank ProfessorQi$demAltay for her helpful advice
and Associate
ProfessorTtlrkiz Gursel for her assistancein studying the platelet
functions.
Summary
The May-Hegglinanomalyis a rareautosomaldominant
disordercharacterized
by
the presenceof large, bizarre,cigar-shapedplateletsand
Dohle bodies in the
leukocytes.This rare anomalywas detected in seven members
of a family.lt is
emphasizedthat in rnaking a differential diagnosis
this disorder must be
distinguished
from the other mild bleedingdisorders.
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stuart MJ' McKennaR. Diseasesof coagulation:
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ln NathanDG, oski
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