October 2012                                                                                             Volume 24
In This Issue
It's Holiday Time... DBA Style!
More Hospital Errors in Children with Chronic Illnesses
Show Us Your Logo!
DBA Fact #6
Journal Club
It's Holiday Time... DBA Style!


We are grateful to two very special families for bringing attention to the Diamond Blackfan Anemia Foundation during the hustle and bustle of the upcoming holiday season.
Please consider supporting their fundraisers while raising awareness of Diamond Blackfan Anemia and raising funds to help the DBAF continue supporting DBA patients, families, and research. As always, thank you for your continued commitment and support.


These 2.75" x  3.5" mirrored
stainless steel ornaments will reflect the twinkling lights of the season. The dazzling ornaments make great gifts and will add some sparkle to anyone's tree!
They are available for a minimum donation of $10.00 plus shipping. 
Please contact Tina Singhas, mom to 2 year old Mackenzie, at to place your order or for more information.
Holiday cards.
(watermark removed on cards)
You, along with your family and friends, can wish everyone on your lists "Happy Holidays" with this beautifully crafted card. Graphic designer, Lauren Pooley, describes her design as "an ornament shaped like a blood drop, with the fans and diamonds together representing the whole organization." 

The cards will be available in packs of 10 for a minimum donation of $10 per pack. For more information, please email Angela Isola, mom to 1 year old Matteo, at

There are limited quanities of both items, so order your cards and ornaments today! 
Thank you Singhas and Isola families!  
Upcoming Events



Jump Day for DBA  
October 21, 2012
1:00 - 5:00pm  
Jump Tupelo
Tupelo, MS
Victoria Boatman
For Facebook Event information, please Click here
Rolling for Robert in Support of DBA  (to benefit DBA Canada)
October 27, 2012
5:30 - 7:30pm  
Scooter's Rolling Place
Mississauga, Ontario
Paula Bourgeois
For Facebook Event information, please Click here



Team Irelynn Quilt Raffle
November 2, 2012
Melissa Rose
For Facebook Event information, please Click here



Replica Autographed Jersey from 2009 NHL All Star game Raffle
December 8, 2012
Chris Bossy 
For photo and more information, please Click here.
Ongoing Fundraisers

Family Letter Writing Campaign 
Pre-printed letters and envelopes have been created for you to send to your contacts! Call or email for more information.
Dawn Baumgardner

Wristbands Available 
Twila Edwards
Tribute Cards Available
(3 Styles)
In honor of...
In memory of...
Holiday tribute
Dawn Baumgardner 
donation donation
5" x 5" Decals Available
Dawn Baumgardner 
window sticker 

Cookbooks Available 
Betty Lightner
To order online, visit:
cookbook cover



Good Search/Good Shop
Raise money for DBAF 
just by searching the web and shopping online! 

Quick Links


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:: 716-674-2818
The Diamond Blackfan Anemia Foundation (DBAF)  is committed to keeping you updated and connected to the entire DBA community. The DBA Foundation is YOUR Foundation!  We encourage you to share your ideas, photos, and stories for our website and upcoming newsletters.  Contact us at

More Hospital Errors in Children with Chronic Illnesses


Children with chronic illnesses are almost four times more likely to experience a hospital drug error than any other patient population.  According to a recent study that examined a federal healthcare database, researchers have found that children with chronic illnesses may be the most vulnerable patients in US hospitals to suffer from hospital medication errors.


Researchers were not surprised by the results reported in the journal, Pediatrics.


"They may stay in the hospital longer, and their condition may be more complicated," explained senior researcher Dr. Huiyun Xiang, of Nationwide Children's Hospital in Columbus, Ohio.


The findings did not indicate the severity of the mistakes or how often they caused harm. According to Reuters Health, the researchers used hospital discharge records and counted certain "codes" as a medical error. That included codes like "complications peculiar to certain specified procedures."  


The important message is that doctors, healthcare workers, parents, and patients need to be aware that children with chronic illnesses present more opportunities and more complications conducive to making more errors.


In 1999 a report by the Institute of Medicine (IOM), found that medical errors cost the U.S. $17 billion to $29 billion a year - and kill nearly 98,000 people. The IOM stresses that heathcare professionals must work together to improve patient safety and has cited a "fragmented" heathcare system as a major reason for the medical errors.


The federal Agency for Healthcare Research and Quality (AHRQ) suggests that hospital patients, and parents of patients, help protect themselves by asking questions. One step is to make sure that one doctor is in charge of coordinating your child's care. Parental involvement and a thorough understanding of their child's in-hospital care and at-home regimen is critically important, especially if there are multiple health concerns.

Show Us Your Logo!    


Eliza thank you

Three year old, Eliza Luddy, daughter of John and Tami Luddy of Vienna, Va, says it for all of us!!  Thank you to everyone who helped the Diamond Blackfan Anemia Foundation win $100,000 in the Chase Community Challenge.  This was truly a worldwide effort and we are grateful and humbled by the support we received from our families and friends. More information regarding this story will appear in an upcoming e-newsletter.


Here's the challenge: We would like to see how many places we can show off our logo! Snap a picture sporting our logo and send us your story. Draw it, print it out, wear it, wave it, tattoo it, carve it, stick it... be creative!  Take us to school, on vacation, to the hospital, on a plane, to the game, in your home... anywhere!  Show us your logo!  Send your photos and stories to  
DBA Fact #6 (reprint)

Ellen Muir
Our Facebook Page posts DBA facts written by DBA nurse, Ellen Muir, RN, MSN, CPON. We are pleased to share these facts with our patients and families. Thanks, Ellen! 


We have been working closely with an adult endocrinologist, Dr. Irwin Klein, at the Feinstein Institute for Medical Research, who has done a lot of research studying heart disease in relation to thyroid dysfunction. Being that DBA patients who are chronically transfused have thyroid issues due to iron overload, he has taken an interest in working with us to prevent thyroid disease as well as cardiac failure due to thyroid dysfunction. As we know, other endocrine organs are also affected - pancreas, gonads, pituitary, as well as linear height. Here is a list of recommended labs to monitor and prevent the devastating effects of iron overload in the thyroid, heart, and the effects of diabetes:

  • total T3
  • total T4
  •  TSH  
  • T3 uptake (instead of free T4)                                       
  • IGF-1(monitors acute fluctuations in insulin action and determines inadequate insulin treatment or poor control of dietary intake)
  • NT-proBNP (aids in diagnosis of left ventricular dysfunction in heart failure)
  • Antithyroid Abs (Antithyroglobulin and AntiThyroperoxidase)   
  • Fructosamine (useful in situations where the A1C cannot be reliably measured - as with transfused persons)
  • Vitamin D             

Any questions, please feel free to e-mail me or call 1-877-DBA-NURSe (322-6877).

DBAF's Monthly Journal Club

Steve Ellis
Steven R. Ellis, PhD DBAF Research Director

Since I'm not running for political office, I thought I would take the opportunity in this Journal Club to be brutally honest.  I dropped the ball.  Yes, I said it, I dropped the ball.  Two months back, Dawn suggested that I discuss two recent research papers relevant to the use of leucine in treating DBA.  Since I figured I already knew what was in these papers and didn't see what the big deal was (I'll come back to this point below), I  pushed instead to cover the ribosome synthesis meeting which was fresh on my mind and filled with exotic new information I felt might be relevant to DBA.  Then, last month with all the excitement and effort put into the Chase Charity effort, it was decided to forego September's newsletter.  So here we are two months later, and I have finally gotten around to taking up the leucine story.  


So I rolled up my sleeves and did a pubmed search of Diamond Blackfan anemia and what did I see? -  "Leucine alleviates Diamond Blackfan anemia," an article published in the premier hematological journal Blood (Kamimae-Lanning & Kurre, 2012).  This article is a commentary on two primary research papers published in the same issue of Blood (Jaako et al, 2012; Payne et al, 2012).  In addition to these articles, there was a fourth entitled, "Activation of the mTor pathway by the amino acid L-leucine in the 5q- syndrome and other ribosomopathies;" where again the effect of leucine in DBA is highlighted.  So it's hardly surprising that this flurry of manuscripts stimulated a great deal of interest in the DBA community, so again, my apologies for not discussing this subject sooner.


Editor's Note: Steve's August 2012 Journal Club article highlighting the Ribosome Synthesis Meeting was an important and exciting article and deserved the priority status!  


I mentioned that I didn't see what the big deal was with the two primary research articles that stimulated this firestorm of interest.  It is not that there is anything wrong with these articles, in fact they are quality research carried out by some of the leaders in the field, it's just that they don't change the underlying fact that the only way we are going to find out if leucine alleviates DBA "in humans" is with a carefully controlled clinical trial; and if you read the fine print in any of these articles, that is the underlying point each makes. 


Unfortunately, this latter point doesn't always come across in the titles we choose. Leucine alleviates Diamond Blackfan anemia... certainly suggests that taking leucine would alleviate the underlying clinical features of DBA, leading many, I suspect, to wonder why their physicians aren't prescribing leucine.  But is that what the authors really meant?  Reading a little further into the fine print, it becomes clear that the commentary is on two research articles that discuss the effect of leucine in ameliorating erythropoiesis in animal and cellular models of DBA.  So the question then becomes how good are these animal and cellular models of DBA in recapitulating the disease observed in humans, and then depending on the answer to this question, we can make a better assessment of the relevance these studies may have on the use of leucine in a DBA patient. 


The research article I choose to emphasize for the rest of this Journal Club is entitled, "Dietary L-leucine improves the anemia in a mouse model of Diamond-Blackfan anemia." This title is certainly an accurate assessment of what is embodied in the manuscript.  Now, in defense of Drs. Kamimae-Lanning and Kurre, Blood severely limits the number of words authors can use in Commentaries, and also requests that the titles be gripping; to catch the casual reader's eye and direct the reader to the primary research article.  Well, eye-catching their title certainly was, but not everyone has access to the body of manuscripts published in Blood, and so some may be left with only the titles, and wonder why their child isn't being treated with leucine.


Let's go ahead and look at the studies in the mouse model of DBA.  The mouse model was created in the laboratory of Dr. Stefan Karlsson in Lund, Sweden.  It is remarkable the lengths they had to go through to create this mouse.  An early mouse, where one of two copies of the RPS19 gene was inactivated, so similar to the situation in 1 in 5 DBA patients, showed no effect on red cell production (Matsson et al, 2004).  Knocking out both copies of RPS19 in mice was lethal shortly after conception, so neither situation reflected DBA in humans, leaving the DBA community without a mammalian model for many years.  In the current mouse, the Karlsson lab put both copies of the RPS19 gene under the control of a compound which can be included in the drinking water.  This compound when ingested then shuts down expression of RPS19, and so the thought was by titrating the amount of the compound the mouse ingests, it may be possible to reduce Rps19 levels to a point that triggers a phenotype akin to what is observed in humans.  And in this respect, the authors were successful.  The mice developed a mild macrocytic anemia.  But it should be pointed out, that these mice do not need transfusions and more importantly, with time, they eventually begin to compensate for the defect in erythropoiesis.  Whether this compensation reflects the remission observed in humans is unclear at this point, but the fact that all mice display this compensation indicates that the mechanism may be distinct from what is observed in humans.  Nevertheless, there is a transient window of time where the mice display a macrocytic anemia which gave the authors a chance to evaluate the effect of leucine in ameliorating the erythropoietic defect. 


The results were encouraging.  The authors saw an 18-19% increase in both hemoglobin and the number of red blood cells; an increase they demonstrated was significant.  But what is the meaning of the term "significant?"  Here, it is meant to show the results are statistically significant, which means that relative to a commonly accepted norm of statistical significance, the results obtained in the presence of leucine differed from the results in its absence (well for you statistical purists, they actually excluded the null hypothesis that the results were the same).  But how do we transfer these statistically significant results in mice to whether leucine might be clinically significant in humans? Well, one would be the magnitude of the effect... would a 19% increase in hemoglobin values dramatically influence transfusion dependence or at least prolong transfusion intervals in a human patient?  Perhaps.  But importantly, in my mind, it also depends on how leucine is having an effect in mice.  If leucine is having its effect by influencing the poorly understood compensation mechanism observed in mice, it may or may not be relevant to humans. 


Many important strides have been made in the use of model systems to investigate aspects of DBA.  But models systems for DBA still remain limited in recapitulating critical aspects of the human disease, and so not everything observed in a model system will translate into improved therapies. And no, I am not ignoring the second manuscript published in Blood entitled "L-leucine improves the anemia and developmental defects associated with Diamond-Blackfan anemia and del(5q) MDS by activating the mTOR pathway"(Payne et al, 2012).  While not implicitly stated in the title, this manuscript also addresses the effect of leucine in model systems, either zebrafish or human cellular models, where many of the arguments I made above for the mouse model still hold. 


Please don't get me wrong.  I am not ruling out that leucine may have a positive effect in alleviating Diamond Blackfan anemia "in humans."  I am just pointing out that regardless of what is observed in model systems, the final answer to this question will only be obtained from carefully controlled clinical trials using DBA patients.  The single publication reporting a DBA patient who had a positive response to leucine is clearly not a definitive study (Pospisilova et al, 2007)


A logical question then becomes-where does the clinical trial assessing the effect of leucine on alleviating Diamond Blackfan anemia "in humans" stand?  This trial has gone through various fits and starts, while the investigators have gone through various funding and regulatory hurdles.  Let's hope that any remaining hurdles in getting this study started can be overcome soon, so we can get the role of leucine therapy in DBA resolved once and for all.                    

Jaako P, Debnath S, Olsson K, Bryder D, Flygare J, Karlsson S (2012) Dietary L-leucine improves the anemia in a mouse model for Diamond-Blackfan anemia. Blood 120: 2225-2228


Kamimae-Lanning AN, Kurre P (2012) L-leucine alleviates Diamond-Blackfan anemia. Blood 120: 2157-2158


Matsson H, Davey EJ, Draptchinskaia N, Hamaguchi I, Ooka A, Leveen P, Forsberg E, Karlsson S, Dahl N (2004) Targeted disruption of the ribosomal protein S19 gene is lethal prior to implantation. Molecular and cellular biology 24: 4032-4037


Payne EM, Virgilio M, Narla A, Sun H, Levine M, Paw BH, Berliner N, Look AT, Ebert BL, Khanna-Gupta A (2012) L-leucine improves the anemia and developmental defects associated with Diamond-Blackfan anemia and del(5q) MDS by activating the mTOR pathway. Blood 120: 2214-2224


Pospisilova D, Cmejlova J, Hak J, Adam T, Cmejla R (2007) Successful treatment of a Diamond-Blackfan anemia patient with amino acid leucine. Haematologica 92: e66-67