Dr Babak Abdolkarimi Pediatric hematologist Case presentation A 8 y girl with hypochromic microcytic anemia and regular tranfusion dependency since age 2 y and frequent low Ferritin level ID: 919907
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Slide1
Transfusion dependent microcytic hypochromic anemia with low ferritin
Dr
Babak
Abdolkarimi
Pediatric hematologist
Slide2Case presentation:
A 8 –y girl with hypochromic microcytic anemia and regular
tranfusion
dependency since age 2 y and frequent low Ferritin level
inspite
of take regular transfusion.
Several work up for etiology of microcytic hypochromic anemia
inspite
of transfusion was negative
.
PMH:resected
capillary
hemangioma
Slide3Slide4BMA iron staining:
1.No ring
sideroblast
2.sever decrease iron store
Slide5S/E(OB):Neg
Slide6Vit B12,Folate :Nl
Slide7Celiac test:Neg
Slide8CBC:
Hb
=5.1
MCV=77.8
MCH=19.5
Plt
=740000WBBC=7780
Slide9Hb electrophoresis
Slide10BM
flocytometry
:
26% Lymph in BM with T-cell dominant
Reversed CD4/CD8 in BM
Slide11Iron profile:
Serum Iron:3(L)
TIBC:492(H)
Ferritin:1(L)
Slide12Slide13Prblem list:
1.transfusion dependent microcytic
hypochrmic
anemia
2.low
SI,ferritin
& high TIBC
3-Reversed CD4/CD8 ratio in BM
4.decreased iron store in BM
Slide14What is your diagnosi
?
Slide15Diffrential diagnosis
1.congenital
hypoferritinemia
2.IRIDA
3.ACD+IDA
Slide16Slide17hypotransferrinemia
Hypotransferrinemia
though rare
should be ruled out
in all case of treatment refractory microcytic hypochromic anemia
.
Diagnosis
is confirmed
by
molecular genetic testing
for mutation in the TF gene. Genetic counseling is available.
Treatment
:
infusions
of FFP
or
purified
apotransferrin
that removes excess iron and replenishes the TF levels
.
Monthly phlebotomy or iron chelation
may be done in severe iron overload.
Treatment
is
life-long
and regular follow-up is recommended
patients
need to be in
long-term follow-up
to monitor the effectiveness of therapy
and manage iron overload.
Slide18The diagnosis of
atransferrinemia
or
hypotransferrinemia
may be suspected in cases with moderate to severe anemia, low
)
serum iron, transferrin saturation, TIBC, TF level
(
but with high serum ferritin.
BMA:
erythroid
hyperplasia with
decreased iron stores.
Hepatomegaly
, due to
hemosiderosis
and fibrosis may be noted in
some cases
.
Slide19IRIDA
Iron-refractory iron deficiency anemia (IRIDA)
autosomal
recessive disorder
IDA unresponsive
to
oral iron
treatment but partially responsive to
parenteral iron
therapy
mutations
in the gene
TMPRSS6
, which encodes a
transmembrane
serine protease
(also known as
matriptase-2
) expressed by the liver.
Slide20inappropriately
elevated levels of
H
epcidin
,
(
a
circulating hormone produced by the liver that inhibits both iron absorption from the intestine and iron release from macrophage stores
.)
TMPRSS6
normally acts to
downregulate
hepcidin
expression by cleaving
hemojuvelin
, a membrane-bound protein that promotes
hepcidin
signaling in hepatocytes.
In
IRIDA
,
recent
studies elucidating the
underlying pathophysiology
are presented.
Slide21باتشکرازتوجه شما