Newbie -- 2 year old

Hi! My niece has a severe case of spherocytosis, which I realize is different than thalassemia, but she is transfusion-dependent.
Transfusion-dependent kids with spherocytosis are apparently quite rare.

Anyway, Maddie is 2 years old and has been receiving regular blood transfusions since she was in the womb. She received about 4 fetal
blood transfusions before they decided to deliver her at 31 weeks gestation. Since her birth, she has been receiving transfusions about every 4-5 weeks (7 weeks is the longest she has gone).

She wasn't diagnosed with spherocytosis until recently. Part of the problem with diagnosing her is that with the frequent (and pre-birth) transfusions, they never had any of "her" original blood to test. DNA tests are pending to determine if it is hereditary or not, but the diagnosis may be wrong.

Her spleen is, of course, enlarged, and they will try to wait until she is 5 years old to remove it. So far, she hasn't had trouble with her gall bladder, but they will be checking that in an upcoming MRI that they are running in order to see the iron levels in her heart
and liver. Her iron count was 1350 5 weeks ago and is 1410 now, so it looks like they will be chelating her soon.  I posted a chelation-specific question on that board.

She is normally transfused when her hemoglobin falls below 7.5. Does anyone know what it feels like to have a hemoglobin of 6.5-7? The idea is that they may try to space out the transfusions a little more -- when her hemoglobin is low, her retic count is still high, so they think her hemoglobin may not fall too much.  But we don't know how that will make her feel, and since she is 2, she really can't speak for herself.  I'm not sure what benefit she would get from having them spaced out, other than fewer transfusions.  I'm just her aunt, but my feeling is that keeping her running at peak and not unduly taxing her system would be better for her.

What do you thals think?  Thank you for any thoughts or ideas you can provide.  I really appreciate it!
Dawn

Hi Dawn,

I will try to get back to give some answers on this tonight or tomorrow, so be patient. I have some things to attend to and also wish to read a bit more about spherocytosis before commenting.

So I'm Maddie's mom.  I've been reading this site all night and love the feedback and support.  We've been told very few people have Maddie's severity of spherocytosis so her "disease" is different than most people's experience....hence we rely on our hematologist 100%.  It's hard as we don't know how she's feeling as she is two and mostly non verbal.

The current plan is to get a MRI this week to check her heart and liver iron levels and start her on exjade asap.  She weighs 23 pounds and I'll now ask about IP6 for her.  Any other suggestions on questions I should ask before we start chelating?  We are hoping the chelating will be short term as a splenectomy at about age 5 may end or decrease her need for frequent transfusions.  Not knowing how she feels as her hemoglobin goes up and down is a major problem for me.  I don't know if she'd rather see if she could hang out about Hb 6.5 or 7 or if she feels draggy and should just be transfused.  Any opinions?

I replied at the other thread at http://www.thalassemiapatientsandfriends.com/index.php?topic=1703.msg14135#msg14135

Hb levels below 7 will result in a very tired girl and may also make her more susceptible to other illness because her body will be fairly weak. It would also most likely result in abnormal bone development. Ideally, hemoglobin levels should be kept above 9 when a patient is transfusing. Folic acid supplements are necessary on a daily basis. After reading a little more, I found that some patients have been successfully treated with Erythropoietin  (EPO), rather than with transfusions. A major benefit of this would be it does not add iron.

I have pointed out the use of EPO and in the other post about partial splenectomy, as they should be discussed with your doctors to see if either might apply with your daughter. I have found that with thalassemia patients, doctors will occasionally take the time to listen when the patient or parent has made a sincere attempt to understand the issues and their treatment. Some will even investigate when something they have not previously known about is brought to their attention. I encourage all patients to educate themselves and their doctors whenever necessary.