Hello, new to this website.

Hello All,

I'm glad to have found this website. I'm just learning about Thalassemia. My 15 month old daughter is currently undergoing blood tests to determine what type of Thalassemia she has. She's been referred to a pediatric hematologist by her general pediatrician because her CBC test came back abnormal. I've been scrambling to learn as much as possible, but am terribly worried. The blood test showed the following abnormalities:

ALT = 34 (H)
Hemoglobin = 9.6 (L)
Hematocrit = 29.9 (L)
MCV = 60.2 (L)
MCH = 19.3 (L)
RDW = 19.4 (H)
Platelet Count = 598,000 (H)

I was wondering if anyone had any input on some symptoms related to this blood disease. For example, even though my daughter is 15 months old, she has never slept through the night. In fact, she has only slept more than 4 hours at a time rarely. It's been quite a struggle teaching her to sleep even 4 hours at a time. And, only recently has she taken naps, ever. Her prior doctors have been stumped by this. I've read all the books on sleeping and have attempted different methods, to no avail. As she's gotten older, I've been able to expand her diet to many other foods besides breast milk, and I've noticed that she's started to sleep more (but still not enough!) now that she eats lots of dark greens, meat, and eggs. Possibly a side effect from anemia? Additionally, I'm worried by how high her platelet levels are. I've read that those with Beta Thalassemia can have chronic platelet activation, but I can't find any numbers or "normal" ranges.

Moreover, her pediatrician had told me to supply my daughter with iron supplements, however after hearing about this diagnosis and reading about it, it seems completely contraindicated to do that. (So I'm not.) From my reading it points more to Beta Thalassemia and not the other types. But I'm no expert. I am in complete upheaval until Monday when her latest blood tests come back. Any feedback would be much appreciated. Thanks so much. I hope I have not blabbed on too much in just my first posting.

Hi Allie,

My first thought seeing the very low MCV and MCH is either beta minor with concurrent iron deficiency or alpha thalassemia, possibly HbH. Those values are significantly lower than what would be expected with beta minor alone. The high RDW makes iron deficiency more of a possibility but does not rule out alpha thal. Has she had a hemoglobin electrophoresis done? Any iron tests? The electrophoresis should give a clearer picture about alpha vs beta. Folic acid supplements are recommended. 400 mcg daily. I agree that you should wait until there are more test results before trying iron. Regardless of which type of thal, a good diet is important, so your concentration on highly nutritious foods is quite beneficial. Do you know if anything was noted in her blood tests at birth? Most states in the US require testing for hemoglobinopathies at birth. Alpha thal is more easily detected by blood tests at birth than later, and mention of Hb Bart would be made if alpha was present. Until you have more test results, the diagnosis won't be certain and even then, if alpha is involved DNA testing may be needed for an accurate diagnosis.

Hello Andy,

Thanks so much for the quick reply. My daughter's hematologist has ordered the hemoglobin electrophoresis test and an Hgb A2 test today and we should know the results Monday. Nothing was noted in her tests at birth except for mild jaundice which was gone in two days. As far as the thalassemia diagnosis her pediatrician just recently diagnosed her as mildly anemic. I felt uncomfortable with that because basically 1/3 of her CBC was abnormal! So I took it to my doctor who then said it looked like thalassemia.

Do you know if alpha thalassemia is often missed on newborns blood tests these days, even if it's "more easily detected at birth" as you said?

As far as feeding my daughter nutritious foods, I'm on it. I've ordered methylated folic acid. Both my daughter and I have the C677T mutation (MTHFR) and therefore we don't process folic acid well and have to take a more (for us anyway) digestable form. Perhaps that's why she has elevated platelet levels.

On a side note, my daughter is very large for her size, and off the charts for both height and weight and head size. Also, apparently her teeth are larger than average. Her BMI is fine. She's very strong and extremely active. She isn't hyperactive but all of her doctor's have been very surprised at her size and physical coordination. I'm not bragging, mainly just confused because she's also "seemed" so healthy. Both her father and I are average size. She doesn't look like malformed, she just looks like she's a 3 year old or maybe a big 2 year old.

Also, maybe this is irrelevant, but I've had many, many blood tests in my lifetime. (For various health issues, a prior surgery, and of course my pregnancy.) It just seems so strange that of the several doctors who have ordered blood tests for me that not one would notice that I have abnormal blood work pointing to thalassemia. (I'm assuming that I'd have beta if my daughter were to have alpha thalassemia because it's usually inherited in an autosomal recessive fashion, although in rare cases I've read of dominantly inherited alpha and beta thalassemia.)

Thanks again for your time and input Andy!

Welcome Allie!

I hope you find the answers you are looking for. This site s full of helpful info and Andy rules!

Hi Bobby, thank you! I can already tell Andy is awesome Thank you for the nice welcome.

Hi Allie,

Regarding your own prior blood work, there are two possibilities why nothing has ever been noticed in your tests. If you are a beta minor, at some point in a CBC result, you would have seen a low MCV and MCH and also physical characteristics of the red blood cells, such as microcytosis or hypochromia. If this has never been noted, it is unlikely that you carry beta. However, the father could be the beta carrier. If alpha thal is involved it is highly unlikely to be noticed in any blood work as an adult. So, if this is thalassemia trait, either the father is the beta minor or one or both parents are alpha thal carriers.

I do not believe that MTHFR will affect the MCV and MCH levels, so I don't think it is responsible for the blood work results, but whether or not it is affecting her health is beyond my scope of knowledge. I will say that it is possible that the platelet readings are incorrect because if she does have folic acid deficiency, the abnormal blood cells may be mistaken as platelets in the tests. I find platelet tests to be prone to error when it comes to anything that affects the shape and appearance of RBCs, so I don't often put much stock in the platelet test unless the same high readings are seen over several tests.

If a newborn electrophoresis was done after birth, Hb Bart should have been detected if alpha is present. However, once again this can be missed by inexperienced lab technicians who don't understand all the possibilities in the test results. Sometimes the hemoglobin variants are simply missed because the electrophoresis is not done properly. Alpha is best caught when it is actively being sought. The new electrophoresis results should clear up the thal aspect. If the HbA2 is elevated above 3 and there is a testable amount of HbF, beta minor will be the likely diagnosis. If HbA2 is normal and there is no HbF, then alpha will have to be investigated. This may take a DNA analysis to properly diagnose. One note. Her remarkable growth is not typical for any type of thalassemia. I don't have any explanation for her growth other than it may be the result of your concentration on a nutritious diet, but it does raise the possibility that thalassemia is not involved at all.

I think that waiting until the test results are available is all that can be done right now.

Hi Andy,

Thank you so much for your time and helpful input. I am beyond grateful for your help in this matter. I hope you don't mind but I'm adding to my earlier post. Evangelina's test results are in, but the nurse read me only a few numbers on the test because she said that the hematologist needed to interpret it. She said all the values were in the normal range except for one which was slightly out of range. She said specifically that Hb A was normal and at 98%. Frustrating for me! I wanted to know exactly what the test said. I know what you said earlier about HbA2 needing to be higher than 3.0 with a level of Hb F present for it to be beta minor. So, I don't know that it's pointing towards beta minor....

I just had several of my blood tests sent to me and for the year before I was pregnant here are two CBC's that were done when I was 20 & 21 years old:
RBC   4.53
HGB   12.7
HCT   37.6
MCV   83
MCH    28.0
MCHC  33.7
RDW   14.3

and the second one:

RBC     4.29
HGB    12.0
HCT    35.7
MCV    83
MCH    27.9
MCHC  33.5
RDW   14.0

A third CBC I had done when I was 9 months pregnant at almost 23 years old where I was diagnosed as anemic and the results are as follows:
RBC      3.61   (L)
HGB     10.6   (L)   
HCT      31.1   (L)
MCV     86
MCH     29.4
MCHC   34.1

Additionally I wanted to add that as far as ethnicity goes, I'm almost completely Russian with a small amount of Irish and an even smaller amount of Native American blood. Evangelina's father is 75% Norwegian and 25% Hispanic.

Thanks again for your time.

Additional info! Evangelina's pediatrician just called me about 10 minutes ago to say that everything on the tests were completely normal. Nothing was out of range. He also said that he checked out her newborn screening test and that nothing abnormal was presented on it for sure. (Of course assuming that the test was done right.) In fact, at the end of the conversation after discussing her extreme growth, big and strong teeth, her high activity level, and her notably good color, he even suggested that he thought maybe her CBC was incorrect or got switched with another toddler?! I am just flummoxed and think my hair will turn gray while I wait for the next two weeks for her hematology appointment. My hat is off to all the people on this website who keep their cool. I sure am struggling to maintain my composure.

Has anyone ever had an experience where they or their child had a botched test? I know that Quest Diagnostic had a recent event where their testing on (I think B-vitamin levels?) were being incorrectly measured on many many clients.   

Hi Allie

So happy for you and your daughter.

Request a copy of the new results for records.

Regards

Catherine

Hi Allie,

I'm happy to learn that your daughter's test was wrong. None of it made any sense in the context of her excellent growth. And yes, I have heard of mistakes from labs and in hospitals. In fact, I regularly remind people to check the blood bags during transfusions because I know iof several instances where a patient was administered the wrong blood or caught it just before the transfusion was to begin. In general, if a test makes no sense, ask for a new test.

Thank you Catherine. Great advice-- I will request a copy for my medical records. That's just smart advice in general.

Thanks again Andy, I have asked Evangelina's pediatrician to order a new CBC and I'm waiting on a call back about that. This website is wonderful and whether or not my daughter has thalassemia, I can't help but feel that I've been irreversibly and positively affected by getting to know and hear the stories of the people here.

The latest news is rather frustrating for me: Evangelina's hematologist has ordered yet another test, Hemoglobin A2 FRC. But he has yet to actually see my daughter or read any of her stats, such as her size and physical health, and her ethnicity. (All of which contradict as you said Andy, this blood disease.) This hematologist is very busy and so far I'm unsuccessful in reaching him and asking him to read Evangelina's health history and to agree to another CBC before other testing. Unfortunately Evangelina's pediatrician and her hematologist don't communicate either. I guess it's a waiting game for now.

Hi all, newest update on Evangelina: her latest CBC came back abnormal again and presenting as thalassemia again. I'm very sad as I'm writing this, but heartened by everyone's stories and support of each other on this website. I keep telling myself that it's lucky to live in a time and place where my daughter can receive excellent medical care. Evangelina's hemoglobin has dropped to 8.5-- down from 9.6 last month. Her MCV has dropped to 50 down from 60.2. And, her MCH levels dropped from 19.3 to 15. We see the hematologist November 14th. Very nervous, but also very ready to finally get to the bottom of this. I'm still waiting to get the actual copy of her latest CBC and those are the numbers I remember off the top of my head. I'm very scared at the low numbers for my daughter. I am worried that she is suffering, although she still maintains her happy demeanor.

  

Hi Allie,

Has the other test result come back? The one that would show HbA2 etc? The blood results look even more like HbH (alpha thal) but the electrophoresis results would definitely help. Her growth has been very good in spite of low Hb, making things more puzzling. I'd be interested in what the CBC has as comments regarding the physical appearance of the blood. I hope the hematologist can come to some conclusions.

Hi Andy, thanks for the quick reply. Yes the other tests came back. All the hemoglobin including HbA2 came back at normal levels. I don't have the test in front of me, but it's coming in the mail hopefully soon. Evangelina's pediatrician did read the tests to me over the phone and said all the hemoglobin was within normal range, and that no abnormal types of hemoglobin were present. Also the most recent CBC with the depressing results, (which is being mailed to me also,) had no comments other than there were some abnormally shaped red blood cells spotted, but no discussion on what the abnormal red blood cells actually looked like. I truly hope the hematologist comes to some conclusion, if for no other reason than I am so worried that my daughter is suffering and I hope to alleviate her low CBC numbers asap. Like you said, it does appear that Evangelina has blood work that presents as HbH, but it seems so strange because wouldn't she have to inherit three deleted or mutated genes? One from one parent, and two from another? Also, I did receive her newborn screening test results which were completely negative for everything including the various thal types. I called the lab that performed the test and spoke with the director who confirmed that alpha thal had been tested and considered negative. I am constantly reminded by my daughter's healthy physical appearance and high energy levels that we are lucky despite what the diagnosis is. Even though her CBC showed her red blood cells as quite compromised, she managed to grow an inch since last month! I'm convinced my daughter has a wicked sense of humor. JK! Tomorrow I will begin my own testing to see if I'm a carrier in some way. Thanks so much for your invaluable input Andy.

Allie,

Honestly, the tests make no sense considering your daughter's growth and activity level. For an MCV to be that low, there should be a good quantity of smaller red blood cells and it doesn't sound that way. I am beginning to wonder if a CBC should be done at a different lab to make sure it isn't an error. If nothing was found at birth, it is almost certain she isn't an alpha thal, since some hemoglobin Barts would be found. And yes, it does normally take 3 genes to cause HbH, although certain alpha mutations can manifest as HbH even when there is only one other alpha mutation present. But again, this should show in the electrophoresis run at birth. In addition, it is almost certain that her growth would not be as is if she had HbH. I will be almost as interested in you in what the hematologist has to say. I am certain your daughter is not suffering, as you would definitely be aware of anything that was bothering her. She sounds like a typical well nourished child who is full of energy. Whatever may be going on does not seem to have affected how she feels and with thalassemia it would.