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Letters
Cord blood donation in Pavia (North Italy): a way to survey the genetic
predisposition to coeliac disease.
EDITOR-The genetic predisposition, at birth, to coeliac disease has
been routinely investigated in the Immunohematology and Transfusion Center
of Pavia since October 1996, when the Umbilical Cord Blood (UCB) Bank was
founded for unrelated stem cell transplantation. Since the beginning, the
umbilical cord blood (UCB) units have had the privilege of complete HLA
class I and II genomic typing. In particular, while HLA class I and DRB1
genes have been investigated at low resolution level, HLA-DQA1 and DQB1
alleles have been extensively studied at high resolution level. In this
way, we have so far 544 genotypings of newborns representative of our
native baby-population, with the benefit of the epidemiological
surveillance programs of HLA-restricted diseases. The term genotype is
properly used as we perform maternal typing of all the UCB units.
We evaluated the rate of DQAlfaBeta heterodimers (DQA1*0501,DQB1*02)
involved in the genetic susceptibility to coeliac disease1. As reported in
Table, we found 104 newborns (19.1%), carrying from 1 to 4 coeliac
heterodimers, a worrying proportion if we consider that parents were
carefully questioned about this disease before the cord blood donation.
In order to verify if the frequency of coeliac heterodimers was
deviated in newborns from that of adult volunteers, the same analysis was
performed on a sample of unrelated individuals of Italian descent,
extensively characterized for HLA-class I and II molecular polymorphisms,
namely: 152 bone marrow donors (BMD), enrolled in Pavia BMD-Registry and
called back for identity with a bone marrow transplantation (BMT)
recipient, and 179 blood donors (BDs) constituting the reference internal
panel for the studies of HLA and disease association. The data reported in
Table show that the frequency of adult volunteers, carrying from 1 to 4
heterodimers, was nearly the same as in newborns therefore confirming that
the genetic structure of Pavia-population is particularly prone to
coeliac disease.
Cord blood donation in Pavia: surveying genetic predisposition to coeliac disease
Letters
Cord blood donation in Pavia (North Italy): a way to survey the genetic
predisposition to coeliac disease.
EDITOR-The genetic predisposition, at birth, to coeliac disease has
been routinely investigated in the Immunohematology and Transfusion Center
of Pavia since October 1996, when the Umbilical Cord Blood (UCB) Bank was
founded for unrelated stem cell transplantation. Since the beginning, the
umbilical cord blood (UCB) units have had the privilege of complete HLA
class I and II genomic typing. In particular, while HLA class I and DRB1
genes have been investigated at low resolution level, HLA-DQA1 and DQB1
alleles have been extensively studied at high resolution level. In this
way, we have so far 544 genotypings of newborns representative of our
native baby-population, with the benefit of the epidemiological
surveillance programs of HLA-restricted diseases. The term genotype is
properly used as we perform maternal typing of all the UCB units.
We evaluated the rate of DQAlfaBeta heterodimers (DQA1*0501,DQB1*02)
involved in the genetic susceptibility to coeliac disease1. As reported in
Table, we found 104 newborns (19.1%), carrying from 1 to 4 coeliac
heterodimers, a worrying proportion if we consider that parents were
carefully questioned about this disease before the cord blood donation.
In order to verify if the frequency of coeliac heterodimers was
deviated in newborns from that of adult volunteers, the same analysis was
performed on a sample of unrelated individuals of Italian descent,
extensively characterized for HLA-class I and II molecular polymorphisms,
namely: 152 bone marrow donors (BMD), enrolled in Pavia BMD-Registry and
called back for identity with a bone marrow transplantation (BMT)
recipient, and 179 blood donors (BDs) constituting the reference internal
panel for the studies of HLA and disease association. The data reported in
Table show that the frequency of adult volunteers, carrying from 1 to 4
heterodimers, was nearly the same as in newborns therefore confirming that
the genetic structure of Pavia-population is particularly prone to
coeliac disease.
N° of HLA-DQAB
coeliac heterodimers UCBDs BMDs BDs
0 440 (80.9%)128 (84.2%) 145 (81.0%)
1 63 (11.5%)15 (9.9%) 24 (13.4%)
2 40 (7.4%) 6 (3.9%) 10 (5.6%)
4 1 (0.2%) 3 (2.0%) 0 (0.0%)
544 152 179
M.Martinetti, B.S., A.M.Iannone, M.D., A.Pasi, B.S., A.De Silvestri,
B.S. and L.Salvaneschi M.D.
Immunohematology and Transfusion Center-IRCCS Policlinico San Matteo-
Pavia,Italy m.martinetti@smatteo.pv.it
1 Thorsby E. Invited anniversary review: HLA associated disease.
Hum. Immunol. 1997; 53:1-11
Competing interests: No competing interests