New from Florida

I am the Mom 5 year old triplets--all fraternal--one boy and two girls.  My MIL has beta thal which has recently been reclassified as intermedia. Insurance won't pay for the DNA testing (wouldn't pay for Vitamin D testing she said) but I would guess she was always just not transfusing.  She's had to start transfusions in the last year (HgB below 7). She is in her late 60s and was dx'd at Boston's Children's Hospital in the 1940s when she was 4yo. She has a myriad of health issues, many of which I think may be related to thal. She sees a hematologist, but has been more concerned with the myasthenia gravis she was dx'd with in the past year.   My husband and one of his sisters are thal minors, although he has more symptoms than she does (she's a vegetarian and in general takes better care of herself I think). Anyhow, we had asked the ped. several times about the possibility of beta thal and they said no, the screening at birth appeared normal (apparently there are many who don't understand about the screening process).  Andy, I know you're busy, but see what you think, please, and do you suggest all thals, even minors, go to a center of excellence, and do you know if Boston's will treat adults? I'll have to type the bloodwork numbers as I don't have the electronic to upload.

E--(waiting on electrophoresis for her and DNA sequencing)
(draw on 3/11)
RBC-5.84
HgB--11.1
HCT-36.4
MCV--62.4
MCH-19.0
MCHC-30.4
RDW-14.1
PLT-530
MPV-5.70

FE was 75; really wish they had done a full iron study

Her Mentzer index was at 10 or so, so I'm pretty sure even without the electrophoresis and sequencing that she has beta thal, but would like the additional info. She's having some other sinus/immune system issues that we're already looking into.

C--they ran electrophoresis and it came back with the following (draw 3/26):
A1-93.4
A2-4.8
F-1.8
RBC-5.52
HgB-11.0
MCV-63.8
RDW-16.4

Unfortunately, they didn't run iron, so I think she's actually more borderline, could just be iron-deficient.  Waiting on an appointment with hemotology.

Screening at birth does not detect beta thal minor. It will detect the more severe forms, but not minor.

Both children have a low Hb and low MCV, along with elevated RBC. E also has low MCH and MCHC. C's electrophoresis shows elevated HbA2 and HbF. Everything I have listed here is indicative of beta minor and with the parent being a carrier, it is almost certain that the two children are also carriers. The RDW is lower than one would expect to see in IDA and the ferritin of 75 is normal.

I'm surprised that insurance won't cover the vitamin D test, as this is the most common vitamin deficiency. I have mine tested every couple years and insurance (Blue Cross) does cover it. Perhaps you should appeal that decision by your insurance company.

I would also suggest contacting CAF about your MIL, and ask for a referral to Boston Children's. Adult thals are for the most part still treated at pediatric thal centers in the US. I don't know if CAF has resolved their email issue, so you may have to call to talk to Eileen.

Thanks Andy!  I'll suggest to my MIL to appeal about the vitamin D.  Related to the kids--although we live in FL, we travel to the Northeast to see family every year.  Do you think I should try to get an appointment in Boston, although they are thal minors, for an evaluation?

Other than for purposes of DNA testing, it would probably serve no purpose to have the children seen at Boston. Even the best thal centers will deny symptoms of beta thal minor.

Ok, I'll just track their stuff myself.  E's info has already been sent for DNA testing (I'm waiting not so patiently)  and hopefully, C's will be sent once we see hematology.  I appreciate your dedication, breadth of knowledge, and speed of reply.

Andy, the first one came back as heterozygous positive with a  c.92+1G>A mutation, which I guess is associated with beta-O thal. Any idea on what the general phenotype looks like, or a place where I can go look? Thanks.

I would assume the two children carry the same gene. It is a point mutation that does manifest as a beta-0. The blood values for heterozygous (only one gene affected) looks very much like the reports of the two children. Typical thal minor.
http://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=output&display_format=page&i=817

Heterozygote
Hb 9.15 - 11.95 g/dL
Hb A2 4.75 - 5.55 %
Hb F 1.75 - 4.45 %
MCH 18.7 - 20.5 pg
MCV 62.1 - 77.9 fL

I would not expect any phenotype similar to your mother-in-law's. The kids do have mild anemia and the best thing that can be done is following a nutritious diet, eliminating empty calories as much as possible, exercise and proper rest. I like to put it in terms of thal minors not having the same margin of error as non-thals, so they have to really pay attention to good health habits in order to optimize their health.

Thanks Andy.  I would assume the same, especially since they are so close in terms of the numbers.  The chart is fairly close to the numbers for both. I'll go read the threads on nutrition and supplements. I bought the wheatgrass  last week.