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Clippings
Theme: Pediatric
Hematology
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Deepak Bansal
Email:
[email protected]
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Diagnosis of iron deficiency anemia using
density-based fractionation of red blood cells (Lab Chip.
2016;16:3929-39).
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A coulter is expensive, not portable, and requires trained personnel; it
is unavailable in many low-resource settings. The paper describes a
low-cost and rapid method to diagnose iron deficiency anemia (IDA) using
aqueous multiphase systems (AMPS). AMPS are preloaded into a
microhematocrit tube and used with a drop of blood from a fingerstick.
After two minutes in a low-cost centrifuge, the tests were read by eye
with a sensitivity of 84% and a specificity of 78%. The AMPS test
outperformed diagnosis by hemoglobin alone, and was comparable to
reticulocyte hemoglobin concentration.
The authors stated that they have created a
simple/low-cost method to detect microcytic and hypochromic red blood
cells, and hence IDA. Instead of directly measuring hemoglobin or serum
ferritin, this new method relied on observing the way in which red blood
cells move through a viscous media (a function of their density, size
and shape) to make a diagnosis.
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Hematologic outcomes after total or partial
splenectomy for congenital hemolytic anemia (J Pediatr
Surg. 2016;51:122-7)
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The risks associated with total splenectomy (TS) such as post-splenectomy
sepsis and venous thromboembolism are major concerns. It has prompted
consideration for partial splenectomy (PS), with the goal of removing
enough spleen to gain a desired hematologic effect while preserving
splenic immune function. The purpose of the multicentric study from
USA/Canada was to define the hematologic response to TS or PS in
children with hereditary spherocytosis (HS) or sickle cell disease
(SCD). The analysis included 130 children, with 62% (n=81) undergoing
TS. For children with HS, all hematologic measures improved after TS,
including a 4.1 g/dL increase in hemoglobin. Hematologic parameters also
improved after PS, although the response was less robust (hemoglobin
increase 2.4 g/dL, P<0.001). For children with SCD, there was no
change in hemoglobin. These data offer guidance to families and
clinicians considering TS or PS.
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A randomized trial of amlodipine in addition
to standard chelation therapy in patients with thalassemia major
(Blood. 2016;128:1555-61)
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Cardiovascular disease resulting from iron accumulation is a major cause
of death in patients with thalassemia major. Voltage-gated
calcium-channel blockade prevents iron entry into cardiomyocytes, and
may provide an adjuvant treatment to chelation by reducing myocardial
iron uptake. In a novel approach, the authors from Brazil evaluated
whether addition of amlodipine to chelation strategies would reduce
myocardial iron overload in thalassemia major. In a multicenter,
double-blind, randomized, placebo-controlled trial, 62 patients were
allocated to receive oral amlodipine or placebo in addition to their
current chelation regimen. The main outcome was change in myocardial
iron concentration (MIC) determined by T2* MRI at 12 months. Authors
concluded that in patients of thalassemia with cardiac siderosis,
amlodipine combined with chelation therapy reduced cardiac iron more
effectively than chelation therapy alone.
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Hematopoietic stem cell transplantation for
homozygous â-thalassemia and â-thalassemia/hemoglobin E patients
from haploidentical donors (Bone Marrow Transplant.
2016;51:813-8)
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Full-house HLA related or unrelated matched donors are often unavailable
for the curative treatment of hematopoietic stem-cell transplant (SCT)
in patients with thalassemia major. The authors, from Thailand, explored
the use of a mismatched-related (‘haplo’) donor in 31 patients. Eleven
patients received SCT from the father and 20 patients from the mother.
All patients received two courses of pre-transplant immunosuppressive
therapy. A conditioning regimen was given followed by T-cell-replete
peripheral blood progenitor cells. The median age was 10-years (range:
2-20). Twenty-nine patients engrafted with 100% donor chimerism. Two
patients suffered primary graft failure. A reversible veno-occlusive
disease, acute GvHD and limited-chronic GvHD was observed in 5, 9 and 5
patients, respectively. Projected overall and event-free survival rates
at 2 years were 95% and 94%, respectively. The median follow-up time was
12 months (range, 7-33 months).
The study demonstrated that outcomes after Haplo-SCT
in patients with thalassemia are acceptable. Finding need to be
confirmed in a larger series of patients, to gain confidence of
paediatricians in recommending ‘haplo’ transplant to patients with
thalassemia major.
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Iron-refractory Iron Deficiency Anemia
(IRIDA): A heterogeneous disease that is not always iron
refractory (Am J Hematol. 2016 Sep 19. [Epub ahead of
print])
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IRIDA is a relatively newly described, autosomal recessive disease. It
is characterized by microcytic, hypochromic anemia and raised serum
hepcidin levels. The patients typically present in childhood with
microcytic anemia not responding to oral iron, along with remarkably low
transferrin saturation. Serum ferritin levels are generally within the
low normal range. Although the genetic basis of IRIDA was elucidated
only recently, the disorder was first described in the early 1980s. Much
is still unknown about its pathophysiology, genotype-phenotype
correlation and optimal clinical management. It is likely that this
condition is underdiagnosed. The disease is due to mutations in the
TMPRSS6 gene encoding Matriptase 2, a trans-membrane serine protease
that plays an essential role in down-regulating hepcidin. The authors
have described 14 different TMPRSS6 variants in 21 phenotypically
affected IRIDA patients from 20 families living in the Netherlands.
In the coming years, it is likely that more will be known about the
prevalence and pathophysiology of this disorder.
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