New diagnosis

Good Morning,
I am writing to get some help with my 11 year old daughters diagnosis.  Her Peditrician noticed unusual blood work in January and recently redid it and it is still unusual.  Her thoughts are Thal. but since she is not an expert we are going to Childrens Hospital Boston tomorrow.  Part of our problem is we do not fit the profile at all. My husband is 100% Irish and I am English and Scottish.  I am hoping that someone here could give me some guidance on questions to ask or things that I should know before we go.  Thanks in advance for any help.

Hi,

Boston Children's has one of the best thal centers in the US, so you are in good hands regarding getting an accurate diagnosis. Most likely, a hemoglobin electrophoresis test will be done to determine the types and amounts of hemoglobin present. This gives a fairly clear picture in most cases, unless alpha thalassemia trait is present. This might require further testing to verify. The results of any prior tests will also be considered, including any comments on the shape, size and color of the red blood cells.

Because your doctor in not experienced with diagnosing thalassemia, and your ethnic background is not normally that where thal carriers are found, it may actually be some other type of anemia, but until more tests are run, you probably can't tell. If you have any results of a prior CBC (complete blood count) I could look at them and give you some idea if the results indicate that she may be a thal carrier. Please be assured that thal carrier is nothing at all like thal major, and is not a threat to her life like thal major would be. Do be prepared that thal carrier is possible regardless of ethnic origin. It isn't common in some ethnic groups but it is present in most groups on earth, as merchants, sailors, etc. have spread the thalassemia genes throughout most of the earth. So, often it comes down to an ancestor centuries ago who was a sailor and brought back home a bride from another country.

Thankyou Andy,

I don't have a complete list of what her CBC was, I was a bit thrown when the dr was telling me the results. What I did write down was RBC is 5.92 color pale, small in shape. Her patlette count is within normal range and iron is 90. WBC is 4.92. She did mention that Em is not anemic.  That's all I know. Hopefully we'll find out more tomorrow.

Thanks again

Heya
Just wanted to share, I have Thalassemia minor  - and i have 8 generations of english/scottish on one side, and atleast 4 english/welsh on the other side.

It took my docs over 2 years to work it out because the blood work kept pointing towards a Thal, but my Hb at its lowest in that time was 11.2, and my gp did the basic testing and said i wasnt. and then they suspected sideroblastic anaemia - and in total they did around 35 different tests or so, trying to work it out at the Haem department, and they sent a sample away for DNA testing - and 6 months later it came back ( cos they do it in batches and its not done very often on non fetal blood) i have a deletion on one of my chromosome 11's for the beta, delta, gamma, and epsilon globin genes.

They kept asking me if i had mediterranian in my heritage and im like ummm no. so they originally assumed based on prelim tests that i didnt have it. No one else in my family seems to have the light coloured small red blood cells that i do. My iron was normal, iron stores and all that was normal, the only thing that gave it away was that my blood films made my anaemia look worse than the Hb suggested it was.... and my RBC was consistently high.

Anywho, it is entirely possible, albeit rather rare and uncommon. Im proof :D