|
|
Nicholas'
Published Medical Journals
This is the
abstract from Nicholas' Doctors in Salt Lake City - Dr. Pulsipher, and his
researcher Dr. Kushner at the University of Utah School of Medicine.
-
1: Blood.
2006 Dec 5; [Epub ahead of print]
-
Congenital erythropoietic porphyria due to a mutation in GATA-1:
the first trans-acting mutation causative for a human porphyria.
Department of Medicine, University of Utah
School of Medicine, Salt Lake City, UT.
Congenital erythropoietic porphyria (CEP), an
autosomal recessive disorder, is due to mutations of uroporphyrinogen
III synthase (UROS). Deficiency of UROS results in excess of
uroporphyrin I, which causes photosensitization. We evaluated a
3-year-old boy with CEP. A hypochromic, microcytic anemia was present
from birth and platelet counts averaged 70,000/uL. Erythrocyte UROS
activity was 21% of controls. Red cell morphology and globin chain
labeling studies were compatible with beta-thalassemia. Hb
electrophoresis revealed 36.3% A, 2.4% A2, 59.5% F and 1.8% of an
unidentified peak. No UROS or alpha and beta-globin mutations were
found in the child or the parents. The molecular basis of the
phenotype proved to be a mutation of GATA-1, an X-linked transcription
factor common to globin genes and heme biosynthetic enzymes in
erythrocytes. A mutation at codon 216 in the child and on one allele
of his mother, changed arginine to tryptophan (R216W). This is the
first report of a human porphyria due to a mutation in a trans-acting
factor, and the first association of CEP with thalassemia and
thrombocytopenia. The Hb F level of 59.5% suggests a role for GATA-1
in globin switching. A bone marrow allograft corrected both the
porphyria and the thalassemia.
PMID: 17148589 [PubMed - as supplied by publisher]
|
|
|
|
Nicholas
Ashby Donation Account
US
Bank (714-529-3983)
Or
just walk into any US Bank
Make
a Donation through Paypal:
|
If
mailing please send to:
Nicholas
Ashby Donation Account
P.O.
Box 1817
Lewiston,
Idaho 83501
|
|
|
If
you would like to send a e-mail to Nicholas click
here.
Site built by First
Impressions Web Design. For all inquiries e-mail |
