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DR DA SILVA MARQUES
DEFINITION
Sideroblastic anemias are a
Pathophysiology
Pathophysiology
Under normal
In the pyridoxine-
responsive
subtype, point
mutations on the
X chromosome
have been
identified that
result in a -amino
levulinic acid
synthase (ALAS-2)
with very low
enzymatic activity
CLASSIFICATION
Congenital sideroblastic anemias
These disorders are genetically and clinically
CLASSIFICATION
Acquired clonal sideroblastic anemia
This disorder is included as a subtype(s) of the
CLASSIFICATION
Acquired metabolic sideroblastic anemia Diverse
Clinical
Typically the anemia of X-linked sideroblastic anemia
DIAGNOSIS
Microcytic, normocytic, or macrocytic
anemia
The presence of ring sideroblasts on
bone marrow examination
Commonly, evidence for systemic iron
overload unless iron deficiency is also
present (eg, from excessive menstrual
blood loss
FBC
A common but not constant finding in the sideroblastic
BM
Ineffective erythropoiesis
mild increase in bilirubin
concentration,
decrease in haptoglobin levels
mild increase in lactate dehydrogenase
levels
and normal or slight increase in
reticulocyte numbers.
ferrokinetic measurements
Splenectomy---NOoooo
There has been a temptation to perform
contraindicated