13 mo old, questions about trait, minor, & intermediate...

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Offline Andy Battaglia

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Re: 13 mo old, questions about trait, minor, & intermediate...
« Reply #15 on: March 17, 2012, 02:19:47 AM »
Hi Sarah,

Any siblings should also be tested to see if they are carriers. This is necessary to help prevent the unintended births of thal majors. Thal carriers need to know their status so that they can make informed decisions about choosing a partner when they are adults. Thal carriers are advised to have partners tested before having children. Because this is such a strong reason for testing, most doctors will readily agree to having all siblings tested. It may depend on your insurance as to whether you will need to go through your family doctor to be referred for testing.

Because you mentioned multiple miscarriages, I should mention that we hear about a disproportionate number of cases of miscarriages and multiple miscarriages in thal minors. Thal minor may be one more contributing factor to your experience.
Andy

All we are saying is give thals a chance.

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Offline Answers4N

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Re: 13 mo old, questions about trait, minor, & intermediate...
« Reply #16 on: March 26, 2012, 09:18:06 PM »
Hi Andy,

I was able to get copies of my own CBC done last year in July, I was wondering if it indicates Thal Minor or just Trait?

Procedure                  Range              Result

WBC                         3.8-10.8            11.9 H
RBC                           3.8-5.10           4.49
HGB                          11.7-15.5            11.7
HCT                          35-45                 36.7
MCV                          80-100              81.8
MCH                          27-33                 26 L
MCHC                        32-36               31.8 L
RDW                          11-15                17.6 H
Plat Count                 140-400             338

Absolute Neut          1500-7800            7842 H
Lymph                        850-3900            2975
Mono                      200-950                  916
Eosin                       15-500                   107
bas                           0-200                     60

Then it says...

Neutro     65.9%
Lymp       25%
Mono       7.7%
Eosin       .9%
Baso       .5%

In Nov of last year for some reason (so four months later) they retested my Hemocratic and Hemoglobin:

Hemocrat was       32.4 L       (range 35-45)
Hemoglobin  was   10.3         (range 11.7-15.5)

I was told about my protein S def. was 51 L (range 60-140) but no one ever mentioned the low hemogoblin, etc.

Any thoughts on what the CBC indicates would be great! Thanks so much (I am trying to patiently await his appt in April to know for sure, lol).

Sarah



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Offline Andy Battaglia

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Re: 13 mo old, questions about trait, minor, & intermediate...
« Reply #17 on: March 27, 2012, 02:25:12 PM »
Hi Sarah,

Your test in July reports low end normal ranges for MCV, MCH, MCHC and Hb. Only the RDW is out of range and suggestive of thal minor. At that time your Hb was normal but in your November test, your Hb had dropped below normal and more in thal minor range. Were there any other comments on your test similar to what is on your son's noting anything unusual about the size, color or shape of some of the red cells, like Hypochromasia or Microcytosis?
For beta thal, trait, carrier and minor refer to the same thing.
Andy

All we are saying is give thals a chance.

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Offline Answers4N

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Re: 13 mo old, questions about trait, minor, & intermediate...
« Reply #18 on: March 27, 2012, 03:48:17 PM »
Hi Andy,

Thank you for your reply :) There were no notes on mine like on our son's CBC. Following the first CBC in July there were pages of notes regarding other tests they had run (they were trying to determine the cause of past miscarriages to possibly prevent a problem in the pregnancy with my son). They tested for Lupus, Cystic Fibrosis, Reubella, Hep B all of which were negative or nonreactive. The notes that were for positive results were only for the Prot S Def and the MTHFR mutation (result: positive for one copy of the A1298C mutation). There is a big long section named Mutations/Polymorphisms, and it lists out Mutations/Polymorphisms Analyzed"...then it says "This assay detects thirty-two mutations...In addition to the ACMG/ACOG panel, this assay detects nine additional mutations. While these (and this ends the page, there was no page after it in my medical record copies so I have no idea if there was any result here or if it is important to Thalassemia issues, I will have to call the Dr office back...). I will let you know what I find out, if they will tell me over the phone, lol.

Sarah

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Offline Answers4N

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Re: 13 mo old, questions about trait, minor, & intermediate...
« Reply #19 on: March 27, 2012, 04:19:56 PM »
Hi Andy,

I contacted the Dr. office and the page missing really wasn't relevant, it was just the explanation for the testing procedure itself concerning Cystic Fibrosis, not any other mutations. They did give me an idea though to get my CBC records from the hospital where our son was born, I had a c-sect so they did a lot of blood work before hand due to pending surgery.

Thanks,
Sarah

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Offline Answers4N

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Re: 13 mo old, questions about trait, minor, & intermediate...
« Reply #20 on: March 27, 2012, 07:01:04 PM »
Ok, I got some more CBC's here now...one done on myself in Feb 2011, the other done on my husband a couple of years ago (I was hoping you might be able to say if it looks like he has anything going on or not).

Mine from Feb.

Procedure                  Range              Result

WBC                         4.8-10.8            14.4 x 10^3 (I have no idea why they put it in these terms, but I don't know what it means)
RBC                          4.2-5.40             3.98 L
HGB                          12.0-16.0            8.9 L
HCT                          37-47                 29.2 L
MCV                          81-99.0              73.4 L
MCH                          27-31                 22.5 L
MCHC                        32-36                30.6 L
RDW                          11-15                17.3 H
Plat Count                 130-400              284

Absolute Neut          50-70                 73.4 H
Lymph                      25-40                16.3 L
Mono                      3-8                      8.3 H
Eosin                      .9-4.0                 1.6
bas                           .2-1                   0.4


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Offline Answers4N

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Re: 13 mo old, questions about trait, minor, & intermediate...
« Reply #21 on: March 27, 2012, 07:25:00 PM »
I was having weird issues typing so I posted mine first. Here are my husbands results of his CBC from a couple of years ago...

Procedure                  Range              Result

WBC                                                 9.6 (there was no ref range given here)
RBC                           4.7-6.1            4.99 (towards lower end but not noted as L)
HGB                          14-18              15.8
HCT                          45-52               44.7 (slightly low but not noted as L)
MCV                          80-94.0              89.5
MCH                          27-31                 31.7 H
MCHC                        32-36               35.4
RDW                          11.5-14.5         11.7 (near low end but not noted as L)
Plat Count                 130-400             193

(Next section was given as percentages, with no ref range noted at all!)
Seg Neut        60.7             
Lymph            27.0             
Mono               9.1 H       
Eosin                1.2       
bas                  2.0 H         

Coagulation – Routine (If this is of any importance)
INR            *1.12
PTT               23.0
Only other things that were shown on his and might not be relevant here was,
BUN/Creat   8.2 L (no ref range given)
Potassium    3.3 L (no ref range given)

I actually had to call them to get ref range on RBC, HGB, MCV, Plat Count and MCH as they weren’t on there, the gal that helped us didn’t know we wanted the ref ranges so she had printed a diff version that left some off.
In my husband’s family history, his great grandfather had Polycythemia vera.

Thank you for any ideas you might have regarding all this info!

With appreciation,
Sarah

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Offline Andy Battaglia

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Re: 13 mo old, questions about trait, minor, & intermediate...
« Reply #22 on: March 28, 2012, 02:14:55 AM »
Thanks for the test reports. Your husband's reports look perfectly normal, with no possibility of being a thal carrier. Your reports fluctuate. Your report from Feb, 2011 looks very much like thal minor, but your later report looked almost normal. Because the Hb ranges more than 2 points in the different tests, I am wondering if something like iron deficiency was also involved. Your July report was much improved. Is there a possibility that you took iron supplements during this time or had a particularly iron rich diet?  Or possibly an illness before the February test?

Was there a list of the mutations found or just the note that they had found mutations?

It is likely that a screening for hemoglobinopathies test was done for your son at birth. This would be the most relevant test to get from his birth.
Andy

All we are saying is give thals a chance.

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Offline Answers4N

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Re: 13 mo old, questions about trait, minor, & intermediate...
« Reply #23 on: March 28, 2012, 01:23:45 PM »
Hi Andy,

That is great news on my husband! Is there any possibility that he could still be a silient carrier? Hopefully not :) Our reg pediatrician's office did say they looked back at his newborn screenings and that there was no indication of the thalassemia at birth. I know they routinely test for PKU, amino acid/fatty acid disorders, metabolic disorders, cystic fibrosis, and the only anemia related disease they tested for was sickle cell disease/anemia - all of those were negative for him at birth.

To clarify, out of all of the CBC's that I listed that were on myself, the first one performed was in July 2010, second one in Nov 2010, and the last one was Feb 2011. So they continuously went downhill. All of those CBC's were done when I was pregnant with our son, the last one in Feb was done right before he was born. I had gestational diabetes with his pregnancy, if that might account for any of it (it was only diagnosed in the last 5 wks of my pregnancy).

Thanks,
Sarah

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Offline Answers4N

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Re: 13 mo old, questions about trait, minor, & intermediate...
« Reply #24 on: March 28, 2012, 10:17:11 PM »
Hi Andy,

I picked up our son's CBC and newborn screen records today from the hospital he was actually born in (he was transferred later to a NICU), so this was his CBC right after birth...

Glucose  L 41 (I had gest diabetes)             (70-115)
HGB       C 23.9      (14.0-18.0)
HCT       H 71.9   (42.0-52.0)

Note: Physician Query

***They the repeated a complete CBC hours later, but on the same day***
WBC   H 23.3   (4.8-10.8)
RBC    5.52  (4.70-6.10)
HGB   H 19.9  (14.0-18.0)
HCT H 60.5 (42.0-52.0)
MCV H 109.5   (80.0-94.0)
MCH H 36.0   (27.0-31.0)
MCHC  32.9  (32.0-36.0)
RDW%   17.6     (13.0-18.0)
Plat   237     (130-400)
Neutro  H 84.2  (50.0-70.0)
Lymph  L 13.1  (25.0-40.0)
Monoc  L 1.0  (3.0-8.0)
Eos L 0.3 (0.9-4.0)
Baso *H 1.4  (0.2-1.0)


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Offline Answers4N

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Re: 13 mo old, questions about trait, minor, & intermediate...
« Reply #25 on: March 28, 2012, 10:22:16 PM »
--Continued from above message...

Newborn screen from hosp he was born in:

Primary CH: In range - not consistent with CH
Galactosemia: In range - not consistent with Gala
CAH: In range - In range -  not consistent with CAH
Cystic Fibrosis - In range - not consistent with CF
Hemoglobinopathy (HGB) - FA - no abnormal bands detected
MCAD/Fatty Acid Ox Dis - In range - not consistent with MCAD
PKU: In range - not const w/PKU
Orangic Disorders - in range - not constnt w/Organic Acid Dis
BIO: In range - not consistent w/BIO

That was everything included in the screening.

Thanks,
Sarah

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Offline Andy Battaglia

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Re: 13 mo old, questions about trait, minor, & intermediate...
« Reply #26 on: March 29, 2012, 12:31:52 AM »
This is the line I was looking for. Beta minor won't usually be diagnosed at birth, but alpha carriers will be, so this should eliminate alpha thal as a possibility.

Quote
Hemoglobinopathy (HGB) - FA - no abnormal bands detected

Concerning your own results, I had assumed 2011 when you wrote last year in July. Now it all makes sense and actually more than some of your test results, the drop in your Hb level during pregnancy is totally consistent with thal minor. Your MCV and MCH are borderline, but a drop to below 9 is fairly common in thal minors during pregnancy. Mother and child definitely appear to be beta thal minors (carriers). The phenotype, or physical manifestation of thal minor can vary depending on the type of mutation or deletion of the beta globin gene, and this is also affected by other factors, but thal minor in general is not a serious condition. However, perhaps its worst effect, based on the amount of reports we have heard here, may be its effects during pregnancy. You have already experienced the drop in hemoglobin, and we hear regularly from thal minor women who have had multiple miscarriages, so thal may also be a contributing factor in your case too. I normally recommend natural vitamin E as a way to help prevent miscarriages in thal minors, along with high dose folic acid, but if you are under therapy to thin blood, you should always consult with your doctor before taking vitamin E or aspirin, because they both have blood thinning properties. I would suggest daily folic acid for you and your son, and if you do get pregnant again, move to a dose of at least 2 mg daily.

I have heard that thal majors should avoid sulfa drugs. I would suggest that you make sure sulfa is not used again, as it did set off an attack of hemolysis. His medical record should include this information, so that he is not given sulfa again. Should he have another attack, review all foods and medications he has had, including Nsaids, like ibuprofen. It is likely that only sulfa is the problem because it is beta thal, so hopefully it won't occur anymore. Your own normal Hb level seems low end of normal, which isn't bad for thal minor, so your son may follow the same course. You alluded earlier to the severity of thalassemia depending on regions, and there are genotypes that are more common in some ethnic groups than others, so a beta+ genotype may be more common in certain areas than beta ° is, resulting in milder forms of thalassemia. Since your normal Hb is over 11, there is a good chance that you are a beta+. This can be confirmed by DNA testing, but would not be considered essential by many insurance companies.
Andy

All we are saying is give thals a chance.

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Offline Answers4N

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Re: 13 mo old, questions about trait, minor, & intermediate...
« Reply #27 on: March 29, 2012, 05:16:30 PM »
Hi Andy,

Thank you for sharing all of this information with us, we really appreciate it!

You mentioned reviewing all foods and medications for our son if he should have another attack and you mentioned ibuprofen, one of the experiences that I did not link to any of this at the time, was when he was sick we gave him ibpfn and he acted so much worse on several occassions, at one point I took him to the ER because it had been nearly 2 hours since we administered the ibpfn and his fever remained very high (something I had never seen before), his heart rate was extremely high as well (noted by the ER nurse). I will definitely watch for that in the future just in case. He seems to do fine with tylenol so we may just stick with that. My entire life I have used ibpfn off and on (I don't take pain med often at all) and whenever I would take it I would feel as though I had taken tylenol pm, it makes me very sleepy, super relaxed...my husband thought that was strange, I wonder if there is any relation or if I am just that much of a medicine lightweight, lol.

Thanks again,
Sarah

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Offline Answers4N

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Re: 13 mo old, questions about trait, minor, & intermediate...
« Reply #28 on: April 17, 2012, 01:14:28 PM »
Hi Andy,

I wanted to give a little update on our son's appointment w/the geneticist. I felt it went very well, the Dr. seemed very knowledgable about Thal and ordered a new CBC, iron Ferritin test, and hemoglobin electro. We should have results within the next ten days (we will go from there, depending on results we may follow up with the DNA testing). Trying to remind myself that ten days is not as long as it suddenly feels, lol.

Thank you again,
Sarah

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Offline Answers4N

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Re: 13 mo old, questions about trait, minor, & intermediate...
« Reply #29 on: May 22, 2012, 06:31:33 PM »
Hi Andy,

These our old CBC's that I got copies of for our toddler's siblings. I have concerns especially for our 13 year old son, but I wasn't sure if his reflected Thalassemia or something else altogether? After getting ahold of his CBC I have asked another doctor to repeat one for current results (which we are doing today). Do you think either our older son or daughter's CBC's indicate a Thalassemia disorder?

13-year old son (CBC done when he was 8 years old, no known issues at that time, physician mentioned nothing to us about out of range counts):

HGB 11.9 L  (14-18)

HCT 34.7 L  (42-52)

WBC 5.2 (4.8-10.8)

RBC 3.95 L (4.7-6.1)

MCV 88.0 (80-94)

MCH 30.1 (27-31)

MCHC 34.2 (32-36)

RDW% - Not given

Platelet Count 397 (130-400) – close to being out of range high, but not quite there

Neutrophil 46.8 L (50-70)

Lymphocyte 42.3 H (25-40)

Monocyte 7.4 (3-8)

Eosinophil 3.2 (.9-4)

Basophil 0.3 (.2-1)

4-year old daughter (done just last year at 3 years), no one mentioned her results to us other than she had a low marker for some inflammation (ESR 13), CBC was done after she complained of bad leg pain & would not walk, they said growing pains, no follow up was done, symptoms subsided within a day or two):

HGB 12 L  (14-18)

HCT 37.5 L  (42-52)

WBC 14.6 H (4.8-10.8)

RBC 5.04 (4.7-6.1)

MCV 74.5 L (80-94)

MCH 23.8 L (27-31)

MCHC 31.5 L (32-36)

RDW% - 13.9 (11-15)

Platelet Count 374 (130-400)

Neutrophil 47 L (50-70)

Lymphocyte 36.2 (25-40)

Monocyte 7.8  (3-8)

Eosinophil 4.6 H (.9-4)

Basophil 1.1 H (.2-1)

Thank you for any ideas you may have, I am planning on taking these CBC's with us to our appt coming up for our toddler with the ped hem, but I didn't want them thinking I was just applying our little one's issues to all of us if the signs aren't there.

S


 

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