This is part two of my talk.
My name is Lucio Luzzatto,
I'm a haematologist at
the Muhimbili University of Health and Applied Sciences in Dar-es-Salaam, Tanzania.
Now, I will come to when the regulation is defective due to a genetic defect.
But as you know very well,
there are two types of genetics.
What we call the classic genetics of inherited disorders which are
transmitted through the germline and therefore like those that I've just described,
but there is another genetics what we call the somatic cell
genetics because mutations can be acquired.
These will not affect the progeny but they
can very much affect the individual in which they take place.
Somatic mutations are of course the essential bases of neoplastic disorders.
All tumors are due to somatic mutations.
But this disease I'm going to talk about is quite interesting because it's not a cure.
And in fact, it was one of the first diseases in
which its somatic mutation was recognized as the basis.
So for a hematologist,
PNH falls into the large class of hemolytic anemias but it has a very special,
I would say, unique characteristics.
Particularly, what I call these clinical triad: Intravascular hemolysis,
thrombosis, but also cytopenias,
not just the red cells which could be due to the intravascular hemolysis,
but also of white cells and platelets.
So when all three are deficient we say, pancytopenia.
Pancytopenia is often evidence of bone marrow failure and the interesting fact about PNH,
is that there is a kind of combination of hemolytic anemia and also bone marrow failure.
For a hematologist, another important point is that,
it is a very rare disorder and that is why often it goes undiagnosed.
This is the estimate of about five per million in the population.
And for a hematologist,
it's also very important that it is a long-term disorder,
although it is a serious disorder,
you can live with it.
And of course, there are also a new treatment that I will come back to.
But I always tell PNH patients is,
"You can live with it."
And I was very gratified that once I got a Christmas card from one patient said,
"I'm living with PNH."
I'd not seen him for a long time.