Here’s an
interesting article; “Inherited
hemolytic anemias (IHAs) are genetic diseases that present with anemia due to
the increased destruction of circulating abnormal RBCs. The RBC abnormalities
are classified into the three major disorders of membranopathies,
hemoglobinopathies, and enzymopathies. Traditional diagnosis of IHA has been
performed via a step-wise process combining clinical and laboratory findings.
Nowadays, the etiology of IHA accounts for germline mutations of the
responsible genes coding for the structural components of RBCs. Recent advances
in molecular technologies, including next-generation sequencing, inspire us to
apply these technologies as a first-line approach for the identification of
potential mutations and to determine the novel causative genes in patients with
IHAs. We herein review the concept and strategy for the genetic diagnosis of IHAs
and provide an overview of the preparations for clinical applications of the
new molecular technologies”
A lot of
these techniques are new to me. I really need to get to grips with what they involve
rather than just taking the conclusions as granted…
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