Læknablaðið - 01.10.1965, Blaðsíða 60

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LÆKNABLAÐIÐ
ætt með arfgenga elliptocy-
tosis,1 sem athugaðir hafa verið
með tilliti til þessara eiginleika,
voru 6 A, 18 BA, 17 B, 1 CA,
6 CB, þ.e.a.s. rúmlega 72% af
BA og B phenotvp (óbirtar at-
huganir).
Umrædd fjölskylda hefur
hinar algengu gerðir þessara
eiginleika.
Arfgengum gerðum af „phos-
pliogluconate dehydrogenase“
(í 2. töflu 6—PGD) og „phos-
phoglucomutase“ (í 2. töflu
PGM) eru tvö af mörgum
kleyfiefnum rauðu blóðkorn-
anna og tengd sykurefnaskipt-
um þeirra.
Hvort arfgeng elliplocytosis
hefur fundizt í Alsír, er mér
ókunnugt um.
Þakkarorð.
Ég þalcka Magnúsi Þorsteins-
syni lækni, sem uppliaflega
sendi sveinbarnið í rannsókn
til mín. Dr. med. Eggerti Jó-
hannssyni vfirlækni þakka ég
gagnrýni og aðsloð við mynda-
töku og frá Höllu Snæbjörns-
dóttur í Blóðbankanum fvrir
aðstoð við blóðflokkun.
Sérstaklega þakka ég Profes-
sor H. Harris og E. B. Bobson
Pli.D. við M.R.C. Human Bio-
chemical Genetics Besearch
Unit og Department of Bioche-
mistry, Kings College, London
W.C. 2, og enn fremur Dr. T. E.
Cleghorn, Director of North
London Blood Transfusion
Centre, Edgware, Middlesex.
SUMMARY.
Algerian-Icelandic Famil-y with
Hereditary Elliptocytosis.
The paper contains summarized
clinical histories, hæmatological
observations, biochemical and
serological genetic data on the
family described.
The propositus, 3 months old
boy, has a moderate hæmolytic
anæmia. His father, an Algerian,
has elliptocytosis, but no anæmia
and no signs of hæmolysis. His
Icelandic wife has morphological-
ly normal red corpuscles, but his-
tory of anæmia without a known
cause and mild anæmia at the
time of the investigation. Their
daughter is hæmatologically nor-
mal. The test for sickling (wet
wax-sealed preparation) was nega-
tive in all members of the family.
The genetic data collected are not
suggestive of linkage between the
elliptocytic main locus and the
Rh system. Other bloodgroup and
biochemical systems used as mar-
ker loci are considered uninforma-
tive from linkage point of view.
The main points discussed are:
1) Age and onset of the ellipto-
cytic change. 2) The hypothesis
of two different ,,normal“ alleles
(el,, eh) of the unaffected parent
and possible consequences. 3)
Short explanatory comments are
made on the various inherited bio-
chemical systems investigated in
the family.
The author has no knowledge
of the occurrence of hereditary el-
liptocytosis in Algeria.
HEIMILD ARRIT:
1. Ólafur Jensson og Ólafur Ólafs-
son (1964): Elliptocytosis here-