Thalassemia Patients and Friends
Discussion Forums => The Spotlight => Topic started by: Answers4N on March 11, 2012, 07:10:38 PM
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Our 13 mo old son had his iron routinely tested last month when we went to a local health department to have his lead levels tested (we did this only as precaution due to remediation going on in our community for lead levels in the soil). His lead levels were low, no issue there. However, his iron test came back immediately with a result of 7. The lady retested to make sure it wasn't due to not enough blood on the sample making it into the little machine. The retest came back right under 9. They referred us to our pediatrician who we coincidentally had an appt with already for the next day. His pediatrician, a pretty smart guy, said to hold off on iron supplements until we new what the cause of the low hemoglobin was. He ordered a complete blood count. They called us and told us that our son had Thalassemia Trait and we didn't need to worry about it at all, because he wasn't having any other issues right now. The 'right now' left me in a land I believe no parent wants to be, lol. I looked it up myself. I tried to get a referral to see a pediatric hemotologist, but the doc office felt that seeing a pediatric geneticist would be more appropriate. I agreed and we have an upcoming appt next month with one.
What I am wondering is, are there any parents or known cases of someone being told they had Thalassemia Trait only to find out they had Thalassemia Minor or Intermediate? I ask, because our son has had fairly strong reactions to some medications that we have read are more common happenings with Minor or Interm. He has had an allergic reaction to a sulpha antibiotic and when he was given breathing treatments with albuterol his hemoglobin level was at its tested lowest (around 7). We know that there are some blood disorders in our family history, but his dad and I have not been tested yet to see if we are carriers, etc. His great-great paternal grandfather had Polycythemia vera. I am of Italian heritage and my husband is of Native American heritage.
Any thoughts on this would be greatly appreciated.
Thanks.
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If it is beta trait, that is the same as beta minor. With Italian heritage, beta is more likely. However, the drop in hemoglobin, hemolysis that occurred after sulfa drugs is more characteristic of alpha thalassemia or G6PD deficiency. Has a hemoglobin electrophoresis test been done yet? Do you have the results of the CBC?
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Hi Andy,
Thanks for your reply! The CBC results were received by our pediatrician, it was his nurse that called us and told us that our son had Thalassemia Trait. We were given no other information about the results. After I looked it up myself and had questions I called them back and asked if the CBC showed if it was alpha or beta...that's when the nurse told me that their lab did not differentiate between the two, just gave them results stating he had the Trait and we didn't need to worry right now, because he wasn't having any other symptoms.
I am not sure what to expect from our visit with the pediatric geneticist, but we still have a little over a month before our appointment. I now have a better idea of tests I might request if they do not bring them up :)
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If an electrophoresis has not already been done, it should be done now. If you can get copies of the tests, CBC and elecxtrophoresis, I would like to see them.
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Hi Andy,
I am going to contact the lab today and see if I can get a copy of his CBC results, and ask if any other tests were performed at that time. I know the doctor only ordered the CBC, would they have been able to do the electrophoresis, if they had concerns, without taking additional blood?
Thanks
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At this point, a new blood draw would most likely be needed.
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Unfortunately, I am unable to just scan the actual CBC right now, but I have the results here...
Procedure Ref Range Results
WBC 4.8-10.8 11.0 H
RBC 4.70-6.10 4.97
HGB 14.0-18.0 9.4 L
HCT 42.0-52.0 30.1L
MCV 80.0-94.0 60.6 L
MCHC 32.0-36.0 31.0 L
RDW% 11.0-15.0 16.9 H
Platelet Count 130-400 489 H
Bands % 0-5 0
Segmented Neutrophils % 50-70 23 L
Lymphocyte % 25.0-40.0 71 H
Monocyte % 3.0-8.0 04
Eosinophil % 0.9-4.0 02
Basophil % 0.2-1.0 0 L
Comment 1 Platelets Adequate
Hypochromasia 1+
Microcytosis 1+
The end notes show that L = Low and H = High
This was all on the CBC, and it was the only test that they ran.
Any perspective on this would be greatly appreciated :)
Thanks.
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The Hb, MCV, MCHC and RDW all support thal minor. A hemoglobin electrophoresis should be able to discern if it is alpha or beta thal. In most states, newborns are tested at birth for hemoglobinopathies. This usually will detect hemoglobin Barts is alpha carriers. Do you know if anything was noted at birth?
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Hi Andy,
The nurse at his pediatrician's office actually told me that she went back and pulled his birth record from the hospital to see if they noted anything unusual then and just did not tell us. There was nothing noted regarding his blood count. When he was born they were most concerned with his blood sugar levels (I had gestational diabetes with that pregnancy, controlled with diet & exercise) but he was only slightly low one time and then he was good there, shortly after he was born (within 24 hours), he developed a collapsed lung (we felt due to him not being suctioned properly after he was born via c-sect), and we were transferred to another hospital NICU where he was put on oxygen, etc. until it healed. I do know that the second hospital repeated much of the newborn lab work, because it was in another state and they had their own procedures to follow. I may need to contact the second hospital and inquire, although, if there was anything noted they did not share it with us! Around six mo. he had pneumonia that seemed to come out of nowhere and then right before his first birthday he got a cold-like virus that came on very fast and very strong and that is when his oxygen level was low and they started him on breathing treatments with albuterol (telling us he may be a lifetime user). We are doing our best to keep him from getting sick again before his upcoming appointment with the geneticist, as I am unsure how the albuterol may be effecting him!
Thank you :)
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The blood test at birth usually can spot alpha carriers, and this information is routinely shared with parents, so alpha seems unlikely. However, as I mentioned, the reaction to sulfa drugs is more common with alpha thal and usually the 3 gene affected HbH disease, but this would most certainly be noted at birth. The condition in which sudden hemolysis occurs is called favism. It can be caused by consumption of broad beans like fava beans and also by exposure to many drugs, sulfa drugs included, and chemical fumes like moth balls and many chemicals that have strong vapors. In addition to being found in alpha thal, favism is also found in G6PD carriers. I feel that the cause needs to be investigated, so that sudden attacks of hemolysis can be avoided. The various lung problems may all be solely related to asthma, and hopefully the worst of this will pass with age. I have several asthmatic children and only one has carried it past childhood and his is exercise induced asthma and can usually be controlled by taking the inhaler before activity. My middle son had the worst asthma of any of the kids and was hospitalized in the ICU twice, once near death. As he grew older, his asthma has pretty much disappeared. I am hoping you see the same pattern as he gets older. Albuterol is no longer considered the first line of defense, as preventive drugs like Advair have become more used. If the breathing issues persist, a daily med may be prescribed so that albuterol is not used so often, as daily use of albuterol does cause nervousness.
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Well, I went and picked up his medical records from the NICU hospital today. There are differences, but maybe you can make more sense out of it then I can, some of the procedure titles are different, etc.
Proc Ref Result
WBC 9.0-30.0 15.6
RBC 4.4-5.8 4.41
Hgb 15-21 15.6 (lower end of normal but not labeled low)
HCT 44-64 43.8 L
MCV 96-108 99.3
MCH 32-34 35.4 H
MCHC 32-33 35.6 H
RDW 12-14.5 16.2 H
Platelet Count 140-300 265
Plt Est Adq
MPV 9.5-12.5 10.4
Seg 32-62 74 H
Band/Stab 0-18 1
Lymphs 26-36 20 L
Monos 0-6 5
Aniso Occasional
Macro. Occasional
Polychromasia Occasional
This CBC report did not have any notes or other information other than patient identifiers/date, etc.
I noticed some obvious differences, but not sure they mean anything, such as his Lymph being low then and high now and his Seg being high then and low now...it seems they have flip flopped.
I really appreciate all of your time and info. Thanks so much!!!
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This last report has values that are completely different from the other report. This report is for a normal person, without thalassemia or anemia. Something is wrong here. In fact, the reference ranges don't even match between the two reports. This new report uses reference ranges that do not seem to be normal. There has to be some error with the new report.
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Hi Andy,
Maybe I needed to label these a bit better, sorry. The first CBC I posted is his current one that was just done. The last one I posted was his CBC that was done right after he was born at the NICU (I only saw these for the first time yesterday when I went to pick them up from medical records). So the CBC I posted yesterday was his first one after birth (2 days old), the one I posted back around the 11th or 12th of this month was the one that he had done 2 weeks after turning 12mo (he is now 13 mo).
Hope this clarifies the difference. I was just posting the his first CBC after birth to see if you noticed anything wrong at that time. The two CBC results I have posted were done by different labs through different hospitals, if that helps make sense of the difference in ref ranges used.
I was wondering something else also, after going over family ethnicity with my family one family member mentioned that I would want to let the geneticist know that I am of Jewish decent...do you know if Thalassemia in Jewish people would be of more or less severity than if it came from Mediterranean heritage? I have read some things lately that suggest there may be a difference in severity of Minor depending on what geographical region a persons ancestors were from.
Thanks.
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Thanks for the clarification. Newborn blood values are a different range, so it all makes sense now. There isn't anything in the birth CBC that would suggest thal minor, but this is normal for a newborn. It seems likely that if they did a CBC at birth, that they would also do a hemoglobin electrophoresis test, as this is much more useful for diagnosing hemoglobinopathies at birth tan a CBC. Percentages for HbA, HbF and HbA2 would be given, along with a percentage of hemoglobin Barts, if present. However, it is not as useful for diagnosing beta minor at birth, so an electrophoresis now would help provide a better diagnosis. I am concerned about the reaction to sulfa drugs and wonder if G6PD deficiency testing should be done. If alpha thal is ruled out, this is something that should be considered.
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Thank you so much for all of your knowledge and suggestions for further testing! My hope is that the geneticist will automatically think of these tests on his own, but if he does not I will certainly be proactive and ask for them. During my pregnancy with him I was diagnosed as protein S deficient and positive for MTHFR gene mutation (possibly an explanation for the many miscarriages I had in between healthier pregnancies that resulted in our oldest son and daughter). Once we know exactly what form of Thalassemia or other blood disorder we are dealing with, will the geneticist naturally test our other children, or do the parents generally have to start back at square one with their pediatrician for each child? Our daughter had good iron levels as a toddler, but I would like her to know if she is a carrier of any gene mutations, etc. that may be relevant for her and her future children.
With appreciation,
Sarah
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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.
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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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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.
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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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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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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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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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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.
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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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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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--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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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.
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.
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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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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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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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The 13 year old does not appear to be thal. His MCV and MCH are normal. He does appear to be anemic, as his Hb is under 12. Iron tests can tell if this is caused by iron deficiency. The 4 year old looks almost certainly like a thal minor with the low Hb, MCV and MCH and slightly high RBC.
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Hi Andy,
Thank you so much for your input, that was what I thought, but wanted to check. Do you know if those with Beta-Thal minor experience chronic or out of the ordinary digestive problems? I have not had these issues and our littlest guy does not, but our daughter (4 year old) has had significant issues beginning when she was around 1 yr, then it subsided temporarily, but has been back for over a year now (symptoms such as very low appetite, constipation beyond what would be considered normal by any means, and possibly reflux - she was prescribed a liquid zantac recently which seems to be helping with pain,but not appetite at all).
If anyone has experience with digestive issues that is not related to transfusions or medications please chime in :)
Thanks,
S
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You bring up a point that we have been hearing about from many people. Bad appetite and stomach discomfort reports in thal minor kids. I can only say that we have heard many similar reports, but there is nothing in any literature that I have seen about thal minor that suggests digestive problems. I am growing to believe that there may be a connection, but cannot explain why it would happen.
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Hi Andy,
We had our toddler's appointment today, the analysis was ordered for Alpha-Thal and a complete iron study. We should know more in a few weeks, I was a bit disappointed that the analysis for Beta-Thal or G6PD was not ordered, but we will be patient and see if they find what we need for a definitive diagnosis. The doctor did not think that our daughter had Thal trait, but may have iron def - I decided to let this rest just temporarily until we get our toddler's results back. I hope she does not have even the trait, but my motherly-sense is saying otherwise.
:)
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The reasons I said thal minor for your daughter is that the RDW is not very high, as it usually is in IDA and the RBC is high, whereas it is expected to be low with IDA. An electrophoresis would shed more light on this, as HbA2 is high in beta minor and HbF is measurable, which is normally not be the case in IDA or alpha trait.
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Hi Andy,
Based on everything I have read (and goodness it has been a lot, lol), I totally agree with your thoughts on this! After seeing a family doctor today for our oldest son, he felt it was important to do the hemoglobin analysis, iron study, etc. for him to see if he carriers the trait or not - and his CBC results were far better looking regarding Thal possibilities then our daughters were. Unfortunately when the referring doctor called to set up our chart w/the ped hem the doc told us that we would end up with the ped hem that was on duty for that day as an on-call person - like we weren't able to pick the ped hem ourselves (so we did not get to request one of the hem that Eileen Scott had recommended to us, this one is in the same group but was not named to us as recommended). I do plan on following up for our daughters sake and I was ordered an iron study on me as well which I have never had done before. I hope with all of this we will have some concrete answers for all of our children, I would happily go without knowing about myself if we can make sure they are all as happy and healthy as possible!
Thanks so much again :)
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Hi Andy,
My confusion is growing greater here :( We got the hemoglobin electrophoresis back on our 13 yr old son, on his CBC he did not appear to reflect Thalassemia really at all...his results however were very conflicting to me:
Hemoglobin A1 93.7 L (>96.0%)
Hemoglobin F 4.1 H (<2.0%)
Hemoglobin A2 2.2 (1.8-3.5%)
Erythrocyte count 4.07 L (4.10-5.70)
Hgb 12.3 (12-16.9)
Hct 36.0 (36-49)
MCV 88.3 (78-98)
MCH 30.3 (25-35)
MCHC 34.3 (31-36)
RDW 14.3 (11-15)
Ferritin 25 (7-142)
WBC 6.0 (4.5-13)
RBC 4.17 (4.10-5.70)
Platelet 355 (140-400)
"Red and White blood cell morphology appears unremarkable" they also noted that "Delta Beta Thal...unlikely without microcytosis and the elevation of HbF is not high enough to suggest HPFH". Then they listed possible acquired causes that were pretty scary!
Then on my newest CBC (all my iron levels were within normal range) the only two things really out of range were my RBC at 5.16 (3.8-5.1) and my RDW at 16.5 (11-15). They noted "The most stringent of three thalassemia screening formulae is positive, but the lack of even mild anemia, the presence of anisocytosis, no poikilocytosis as usually seen with beta-thal, and the low-normal ferritin level militate against thalassemia-minor. If further testing is clinically indicated, the Alpha-Globin common mutation analysis...would be helpful".
If my children have presence of Fetal Hgb which is found with Beta-Thal and I don't have Beta-Thal then there father must? or is it possible that I might just be a carrier and had it show up only during pregnancy?
Oh boy, this is not just a simple diagnosis journey is it, lol!
Thanks so much,
Sarah
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Hi Sarah,
The HbF level is puzzling. The delta beta carrier possibility almost makes sense, as the microcytosis can be very mild, but even then it normally will result in MCV at the low end of normal, and your son's MCV iis right in the middle of normal. It could be possible that a benign beta variant is present. The scarier reasons for a rise in HbF should be noted by observations about the blood or the white blood cell count, and there is nothing seen here. The WBC is completely normal and that is very important as it rules out CML. The combination of alpha and beta in your son does seem unlikely because the HbF is higher than would be expected, although a combination of alpha trait and delta beta might be a possibility. I think yuo have probably reached the point where a DNA analysis might be the only way to get a definite answer on anyone involved.
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Hi Andy,
Thank you for your thoughts on this, we are still awaiting our toddler's alpha results and then we will go from there. I do think all of our children will need to have the DNA testing done, if for no other reason, it will inform them for decision they make as adults and provide them with some solutions to keep in better health!
Thanks :)
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Hi Andy,
Results are in for the alpha deletion test, it is negative for 7 common deletions (guess they did not do the test for mutations). At this time the only advice given was to follow up with reg doc at next checkup to recheck iron levels.
I am at a loss on where to go from here. Should I follow up with a hematologist for our older son and see if we can get answers for his elevated HgbF...? I feel blessed that we have at least eliminated one possible cause of symptoms our little one has had, but sooo frustrated that we have no more answers than we did over a month ago.
If G6PD was an issue, would that have shown up on either the electrophoresis or the alpha deletion test?
Thanks,
Sarah
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I just wanted to give an update on our son...it has been quite a while.
Our son developed a palpable lump on his right collarbone (no trauma, fractures, etc. in the area so quite puzzling). Our first question was if it was somehow related to his true iron anemia or if it was related somehow to his Beta-Thal minor diagnosis (even though we know it should not cause this if it is truly the minor state).
After multiple xrays, an MRI w/out contrast, and landing at the wrong pediatric surgeons office...we got regrouped and sought a pediatric ortho surgeon. At this time it appears that he has an exstosis of the clavicle (which could be a symptom of several conditions related to bone dysplasias and bone lesions) - no signs of anything malignant and no signs of cyst or other abnormal tissue. At this time it appears to be made of un-mutated bone and bone marrow...he has had the lump for about 4 months now and it has only gotten slightly larger in this time. It was recommended at this time to wait 3 months and have new images taken and then go from there. In the meantime we are taking him to a neurologist to try to out rule some issues like neurofribromatosis or other types of anemia that are related to cafe au lait spots (he has more than 6).
Has anyone had bone issues with a Thal-minor state? My confusion continues on all of this and I sometimes wonder if the Beta-Thal is more responsible or less responsible than our family thinks it may be at times with the other issues he is having.
Best wishes to everyone, hope all is well :)
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There is a possible relation to thalassemia. I would suggest showing this article to your doctor, as it does explain why bony growths may occur in thalassemia, even minor. Although the article refers to changes in the mouth, it also mentions that the expansion could also be seen in the hand and wrist, and that theoretically this could take place in every bone. There may be a connection to any anemia.
http://scialert.net/fulltext/?doi=jms.2007.923.925&org=11
The radiographic findings described in our case might be added to the well-known hair-on-end lateral cephalometric x-ray appearance and macroscopic maxillary enlargement on head and neck diagnostics (Hollar, 2001; Weel et al., 1987). The medullary expansion due to increased production of erythropoietin could be seen in the radiograph of the skull and hand wrist (Murphy et al., 2002). This appearance considered to be apart from the Thalassaemia a general radiographic sign of severe anaemias such as sickle cell disease (Forbes and Jackson, 2003). As far as we know, the dental panoramic tomography was not reported in the literature as an investigation for examining the quality and quantity of bone in patients with Thalassaemia. Our suggestion is compatible with that of Tyler et al. (2006) concluding that skeletal manifestations may be seen theoretically in every bone. Therefore, the mandible may be included in the process of biochemical changes based on erythropoietin function. The centers of maxillary bone overgrowth, at this case report, seem to be located between the canines and premolars bilaterally indicating the possible location of the expansion origin (Fig. 3). In cervical spine, platyspondyly or bone in bone appearance did not appear in panoramic tomography.
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Thank you Andy, I will print that and share it with his doctors! Is there a test or measure of erythropoietin function? Is it the sedementation rate or ESR? We were discussing the other night, among family, that it is odd to us that no one has done a simple chemical panel on our little one, he has had all these CBC's, and more in-depth tests, yet not a single chemical workup since he was in the NICU right after birth...I plan on requesting one, while we dig for deeper answers I don't think we should avoid what may potentially be some obvious answers (one can hope, lol).
Thank you again :)
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I was told my whole life I had Thal Trait until I got pregnant at 35 and they did testing and told me I was Intermedia!
Im 44 now
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Sarah,
There is a blood test for erythropoietin. You can read more about it at http://www.medicinenet.com/erythropoietin/article.htm
It is not the same as the ESR test.
Joanne,
Intermedia is something of a vague status. Most thal intermedias have two defective beta genes, but they are not as severely affected as in major. Some are intermedia because they would normally have a more severe phenotype, but they also carry alpha mutations and that will moderate beta thal so it is not as severe, because there will be a closer balance in alpha and beta globin produced, because both sets of globin genes are affected. And there are some who have only one beta gene affected, but is it a dominant gene and even though it looks like minor, some have to transfuse. Since there are hundreds of different beta mutations and deletions, there is a wide range of possibilities when two of them combine in an individual. Have you ever had DNA testing done to determine which beta and possible alpha thal genes you carry? Your Hb is high for an intermedia, but your excess iron absorption has been that of one with a much lower Hb level. The more I hear reports from thal patients, the more I realize that the accepted knowledge about thal often varies greatly from what real people experience.
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I heard sometime ago story of a person who was having Intermedia whose family members came to know after the person died, that their family member was having Thal. Intermedia. Means no body was knowing that he was having Thal Intermedia except the person suffering.
The whole story came out when one day they found out the medical report file of the person who died. ???