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Bart,

Thanks for your reply and thorough information. I had read that if you

have thalassemia, the fetal hemoglobin type is better as it somewhat

offsets the effects of having microcytic, hypochromic hemoglobin. Your

comments do raise some interesting speculation about the complexities

of oxygen binding at the placental:fetal interface when mother has

elevated fetal hemoglobin due to thalassemia. Glad to hear your ITP was

curable. My son's paternal grandfather had purpura (ITP perhaps) and

had heavy, frequent nosebleeds and bruising and eventually a

spleenectomy. No sign of purpura in either son, but unfortunately they

both got thalessmia from me. Such is life out in the tails of the

normal distribution...

take care -

Betsy

> Betsy,

>

> Actually the two disorders mentioned here are radically different.

> ITP

> stands for " ideopathic thromobocytopenic purpura, " and is a disorder

> in

> which the immune system deposits IgA antibodies upon platlets and the

> spleen

> (which I had removed) subsequently removes them from circulation.

>

> The net effect is identical to hemophellia.....very heavy bruising,

> bleeds,

> etc. Fortunately steroids and the removal of the spleen ultimately

> (after

> years) were curative.

>

> In your son's case, the sub type of beta thalassemia minor he has

> actually

> provides him with " better, " oxygen transport than the rest of us

> (aside from

> the Hb deficit). Fetal Hb has a higher binding affinity for oxygen

> than

> adult Hb (in this case of course maternal Hb) as it must bind oxygen

> from

> maternal Hb at the placental:fetal interface.

>

> Actually, the removal of my spleen been fortuitous relative to ESRD,

> as I

> require no erythropoiten and probably won't, even though my function

> is now

> less than 20%. In fact, post splenectomy and prior to kidney issues,

> I had

> to give blood fairly regularly in order to avoid HCT in the 65+

> range...very

> dangerous relative to clotting (exactly the opposite problem I had

> before).

> Polycythemia vera, the name of this disease, is extremely rare....so

> I have

> been triply " lucky, " in having disorders that affect one in a few

> thousand

> (IgA nephropathy) to one so rare that most hematologists never see a

> case

> (PV).

>

> To your root question, beta thalassemia, minor or not, has no bearing

> whatsoever on IgAN.....the former being a marrow disorder (one of

> deactivation of Hb production that failed) while IgAN is caused by

> deposition of IgA antibodies within the kidney matrix as a result of a

> mutation of DNA which codes for the hinge region of that antibody,

> which is

> aggravated heavily by complement activation (i.e. when you have an

> infection...particularly URI's).

>

> Your son is simply unfortunate in having two fairly rare disorders.

>

> I hope this helps.

>

> Cheers, Bart

>

> Re: patent search

>

>

>

> Bart,

> I was interested when you mentioned that you have a hematological

> disorder. What is ITP? My son has beta thalassemia minor (as do

> several

> of us on my side of the family), which caused complications in the

> management of the anemia of chronic renal failure and apparently

> caused

> him to develop the anemia of CRF much sooner than usual (when his

> creatinine was still at 2.0). It is a hemoglobinopathy and we have the

> subype where the production of fetal hb never gets turned off. We have

> wondered if there was any sort of connection with the IgAN, but the

> nephrologists don't seem to know much about thalessemia, and

> conversely

> the hematologist knew nothing about IgAN. After the transplant he went

> back to his normal (but mildly low for most people) hemoglobin level

> and did fine until the recurrence of the IgAN in the new kidney and

> has

> been epo-dependent again since then.

>

> Betsy

>

>

>

> > You are exactly right. The latter example is nothing more than

> > patent-plumping by researchers in academe or industry (I know, I

> used

> > to do

> > this myself).

> >

> > The former, not sure where this is in the FDA approval/trial

> process,

> > but as

> > both a biochemist and a biotech investor, I will look into this

> upon

> > my

> > return from upcoming travels.

> >

> > The word " preventing, " in the first instance is an overstatement.

> IgA

> > nephropathy (along with ITP, a hematological disorder, both of

> which

> > I have)

> > is caused by a mutation in the DNA which codes for the hinge region

> > of the

> > IgA antibody. The idea that this is selectively inhibited, without

> > associated hypoimmune response (what I mean by this is " ordinary, "

> > immunosuppression, example that caused by prednisone or cellcept)

> > seems a

> > bit far-fetched.

> >

> > However, for fairness, give me a few days and I will look into

> this.

> >

> > Beyond that, let's hope its a miracle. However, please note that,

> > given my

> > training, I doubt it.

> >

> > regards, Bart

> >

>

>

>

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