Issue #9  June 2011
In This Issue
Going Hog Wild
Did You Know?
Show Us Your Logo!
Happy Father's Day
Where Are You?
DBAF Journal Club

Going Hog Wild for DBA



Recognizing the importance of getting involved, many DBA families draw on their family's occupations, talents and personal resources to raise money to support the mission of the DBA Foundation. When the Sisemore family decided that they wanted to do a fundraiser in honor of their son, Milledge, they tried to think of a way to set their efforts apart in their community. "All we needed to do was look around our family's farm, where we raise beef, pork, and chicken for sale at area farmers' markets, and we knew that our family was in a unique position to raise money in a fun way that utilizes our farm's bounty while also raising awareness of and rallying support for DBA in our community," stated Milledge's mom, Melanie. 


During the month of June, the Sisemore family's Red Haven Farm is sponsoring the Whole Hog Raffle!  The Grand Prize is - you guessed it! - a whole pasture-raised hog, custom butchered, cut and delivered to the lucky winner.  Thanks to the generosity of the Southeastern Pennsylvania sustainable farming and farmers' market community, additional raffle prizes have been donated by their fellow farmers market vendors.  In addition to the grand prize hog, raffle items include gift baskets and gift certificates from farmers, bakers, cheese makers, restaurants, and others, including locally and nationally acclaimed cheeses from  Birch Run Hill Farms and the Saveur magazine-lauded, Talula's Table.


Raffle tickets are just $5 and can be purchased during the entire month of June at any of the Sisemore's  farmers' markets or by contacting The drawing will take place on July 1.  Families in Southeastern Pennsylvania or surrounding areas who wish to purchase and/or help sell tickets can contact Melanie at (267) 918-8675.


Thank you Sisemore Family for your creative and very generous donation. Bring home the bacon! 

Melledge with pig
Upcoming Events
Whole Hog Raffle 
Month of June
Red Haven Farm
Southeastern PA
Melanie Sisemore

Garage Sale for DBA 
June 18, 2011 
Buffalo, NY
Scott & Becky Kozlowski

Fun Day for DBA 
June 25, 2011
396 Wilson Street
Clinton, MA

Matthew Pulnik & Julie Grady

Zumba Fitness Fundraiser
for DBA
July 31, 2011  
Berea Recreation Center
Berea, Ohio

Carol Mancuso

Friends of DBAF Golf 

Outing & Silent Auction 
September 17, 2011  
Cherokee Hills Golf Club
Valley City, Ohio

Jim and Carol Mancuso


Wristbands Available
Twila Edwards 

Tribute Cards Available
(2 styles)
In honor of...
In memory of...
Dawn Baumgardner

donation donation

DBA Cookbooks Available

Betty Lightner
To download your order form:

cookbook cover 

Good Search/Good Shop

Raise money for DBAF just by searching the web and shopping online!

Just download the GoodSearch - Diamond Blackfan Anemia Foundation - DBAF toolbar at


Search the Web now Money-saving coupons


Join Our Mailing List

Quick Links

Join the DBA Yahoo Group

Find us on Facebook

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

Did You Know?  


We are excited that thousands of DBA families and friends from all over the world "like" the Diamond Blackfan Anemia Foundation's Facebook page, and we encourage you to visit our page often.  The page allows us to provide regular updates and "real time" news. We also recognize Facebook has its limitations. It is easy to miss a news feed and not everyone is a Facebook user. Our goal is to keep all DBA families informed and updated. For those preferring to receive information and support via email, the DBA community has an email-based Yahoo support group.  You can join the group by visiting

Our Facebook page posts DBA facts written by DBA nurse, Ellen Muir, RN, MSN, CPON. Ellen has shared four well received DBA facts and has agreed to allow us to print the DBA facts in our e-newsletters. This month, we will catch everyone up on the past facts, and future issues will include subsequent DBA facts.     Thanks Ellen! 



Approximately 20% of those affected with DBA have a chance of going into spontaneous remission. These can be long lasting. It is possible to go into and out of remission at any point of your life. Remission for DBA is when no treatment (steroids or transfusion) are required for 6 months or more.


One unit of blood contains 200mg of iron, which would be the same amount of iron as eating 69 lean 3oz steaks. One 3oz steak contains 2.9mg of iron.

Food restrictions of iron are unnecessary in preventing iron overload, however supplemental vitamins should be avoided. (Women's One a Day vitamin contains18mg iron, Men's One a Day vitamin contains 0mg iron).



Red blood cells (RBCs) are produced in the bone marrow. The RBCs carry hemoglobin to all the cells of the body, providing oxygen for function. Reticulocytes (retics) are immature red blood cells. The % will tell us how hard the bone marrow is working. It is not uncommon in a bone marrow failure syndrome such as DBA to have a retic of <1%.


Drugs which have been studied to improve RBC production include:

Corticosteroids (prednisone, prelone, prednisolone) Has been the standard drug for treating DBA with a response rate of 80%. Many side effects with long term use, or at high doses, including growth stunting, high blood pressure, cataracts, diabetes, and osteoporosis to name a few. With an initial trial of high doses, there is a risk of infection, especially a serious form of pneumonia. Bactrim can be given to prevent this from happening. If there is a response in hemoglobin and retics, the dose is tapered to a more tolerable lower dose (ideally 0.5 mg/kg every other day)


Cyclosporine A (CSA) and Antithymocyte Globulin (ATG) has been studied in DBA patients with limited success. An NIH-sponsored protocol combining CSA and ATG closed due to poor responses. These drugs are associated with serious side effects, including compromising the immune system and kidney failure.


Epogen (procrit, epo, erythropoietin) Erytropoietin is produced naturally by the kidney to help improve production of RBCs. It can be supplemented by injection for low levels in the system. Patients with DBA have no problem with production, in fact usually have very high levels. Even giving high doses will not increase RBC production in DBA. Proven not to work.


Metoclopramide (Reglan) Has shown to be effective in DBA. A 33% hematologic response rate in a small group of patients with DBA using metoclopramide, an inexpensive, commonly used drug for reflux, induces the release of prolactin from the pituitary gland, thereby increasing prolactin levels. It was proposed that prolactin likely improves erythropoiesis by stimulating cells in the microenvironment of erythroblasts. Unfortunately other studies in the US and Europe did not confirm these responses but showed a 10% response rate.


Leucine (L-leucine) Leucine is a branched chain amino acid (BCAA) used by muscle for energy. Amino acids are the building blocks of protien and commonly found in food. Recently, leucine has been tried in one patient in the literature with DBA. A complete response was associated with its administration (discontinuation of transfusion). In unpublished data 5 more patients have been placed on a leucine trial with partial responses in 4 of the 5 patients (either decreased need for treatment or discontinuation of treatment). A clinical trial to study the safety and effectiveness of giving leucine to 50 DBA patients on transfusions is soon to open, once the protocol goes through the approval process of the DOD, FDA and hospital review board.


Other drugs undergoing investigation presently or in the near future are: lenalidomide (Revlimid), and drugs used for cancer treatment with a side effect of increased hemoglobin. No results are available yet.



Criteria for starting chelation:

At transfusion # 10- 20 measure serum ferritin. If between 10 and 20 transfusions serum ferritin is greater than 1000- 1500 ng/ml, on 2 separate occasions (a month apart), start chelation.  Ferritin levels are elevated with any stress on the body...the flu, a cold, virus, etc. It is considered 'an acute phase reactant'.  Need to monitor ferritin as a trend, slowly going up or down, not a jump.   If ferritin is high for age or with number of transfusions, you should be tested for the hemochromatosis gene (HFE) which is another disorder which the body retains iron, causing the same problems as transfusions.  Combine with transfusion- double trouble.  

Before starting chelation, should have hearing and vision testing as well as an echocardiocram and EKG as a baseline and then once a year.   


- Dosing of Desferal (Deferoxamine, DFO) 40mg/kg 7 nights a week, then may taper to 5 nights a week. A Desferal challenge may be done before starting DFO, which is admission to the hospital, collecting urine for 24 hrs to measure iron without DFO and then start DFO, collecting urine for another 24 hrs for iron quantification.  If not enough iron is being excreted, may need to hold off starting due to high possiblity of toxicity from DFO.

Desferal only works while it is being infused.  Once it is disconnected, the free iron has nothing to bind to in order to be eliminated from the body.

Some doctors like to use vitamin C with chelation.  Must be used with caution.  It should not be taken when the DFO is not being infused!!!  The vitamin C pulls iron from the tissues into circulation.  If there is nothing there to attach to (DFO), it will deposit somewhere else- possibly the heart!!!  


- Exjade (deferasirox) dosing is 20 mg/kg and may be escalated to 40 mg/kg maximum dose.  Exjade works well to maintain iron balance, does not bring ferritin levels down very quickly.  May be used at the same time as DFO ie. DFO 12 hrs over night, then Exjade in the morning.


Iron Overload is a Serious Health Condition with no symptoms until it is too late.  Some complications include:

cirrhosis or fibrosis of the liver

cardiac arrythmias, which can be lethal


reproductive organ failure

growth stunting

endocrine failure affecting the thyroid

as well as others.  


Please call me with any questions.  Iron overload is reversible, even if in trouble with cardiac issues.  Diabetes and reproductive failure may not be reversed. Ellen Muir, RN, MSN 1-877-DBA-NURSe (322-6877)

Take the Challenge ~ Show Us Your Logo 

Buckmasters 5K
 T-shirts, hats, coffee mugs, face paintings,  tattoos, bags,  pumpkins ... our logo is showing up everywhere! We are thrilled that our beautiful logo is proudly being worn and displayed by patients, families, and friends.

 Two-legged and four-legged friends and family members of Jacob and Scarlett Buckmaster show their support for Jacob and all DBA families at a recent 5K Walk/Run for DBA held in  Republic, MO.  
Here's the challenge:  we'd like to see how many places we caDBAF  Logon 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... 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 

Happy Father's Day 

fathers day toes

The Diamond Blackfan Anemia Foundation  extends our sincerest wishes to all the extraordinary fathers, grandfathers, uncles, brothers, friends, and all the special men who touch the lives of our DBA families.  We recognize and applaud the difficult and rewarding job you do. Relax and enjoy your special day!  

Do you know about our Mother's Day to Father's Day Challenge? Click here to learn more Celebrate DBA Moms & Dads.  

Help Fund Research!  

To celebrate the "awesomeness" of DBA moms and dads, the DBA Foundation challenged families and friends to raise $10,000 in the 43 days between Mother's Day (May 8) and Father's Day (June 19).  We are thrilled to report we reached that goal in just 31 days!  We have blown the top off our thermometer!


With six prominent researchers asking for funding from the DBAF, let's not stop here!  With the support of our families, our hope is to be able to provide funding for all the approved projects. This could total over $500,000.


These worldwide research projects have the potential to answer questions, to identify genes, to unlock the mystery of remission, to provide insights into therapeutic agents. We cannot fund DBA research without YOUR help. Let's keep that total going! Let's get these projects funded!


Donating is easy and all contributions are tax-deductable. Please visit our  website for details. Scroll to the bottom of the page to check our progress! 


Where Are You?


Did you receive the latest 16 page DBA Newsletter last week? Help us to help you! If you did not receive the DBA Newsletter in the mail, it may mean we do not have your current mailing address. Update your information at 

If you have any questions, contact Dawn at 

 Journal Club 
Steve Ellis
Steven R. Ellis, PhD
Research Directo

This month's Journal Club deals with a very serious issue.  The issue is the potential use of lenalidomide as a treatment for DBA.  Before discussing the article, I should provide a little background.  In 2008, Dr. Benjamin Ebert, Assistant professor, Harvard Medical School led a team of investigators in a landmark paper showing the refractory anemia observed in 5q- syndrome was caused by haploinsufficiency for RPS14, which encodes a small subunit ribosomal protein1.  If this sounds familiar, it should.  This manuscript indicated that 5q- syndrome, which typically occurs in older adults, could be considered an acquired form of DBA.  The term 5q- relates to the fact that individuals with this bone marrow failure acquire a deletion on the long arm of chromosome 5 in myeloid progenitor cells.  This deletion allows a clonal population of cells (presumably all derived from a single cell that initially acquired the deletion) to gradually overrun the bone marrow in what has been described as a pre-leukemic state.  Included in the region of chromosome 5 deleted in 5q- patients is RPS14.  These progenitors, like progenitors in the marrow of a DBA patient, do not efficiently differentiate along the erythroid lineage and as the clonal population becomes an ever larger percentage of progenitors in the bone marrow, the 5q- patients become anemic.  The bone marrow of a patient with 5q- presumably has a mixture of normal and 5q- progenitors, a situation that is distinct from DBA where all progenitors harbor the mutated gene.  This distinction is of fundamental importance when considering the discussion that follows.


It turns out that individuals with 5q- syndrome respond very favorably to lenalidomide where a high percentage of patients become transfusion independent.  Logically, one might therefore wonder whether a drug that works for 5q- might also work for DBA.  Well here the plot thickens, because whether or not lenalidomide might work for DBA patients likely depends on its mechanism of action.  There are currently two potential mechanisms whereby this drug may work in 5q- syndrome.  The first is that lenalidomide may stimulate erythropoiesis in the progenitor clones and promote their differentiation into mature red bloods cells thereby resolving the anemia.  The alternative mechanism is that lenalidomide is toxic to the abnormal clone and kills off the abnormal progenitors allowing the marrow to repopulate with normal progenitors.  If lenalidomide works by the first mechanism it may be effective for DBA where it could enhance erythropoiesis from progenitors harboring ribosomal protein mutations.  If, on the other hand, lenalidomide kills off the abnormal clones, and progenitors in patients with DBA are recognized as abnormal clones, then treatment with this drug could induce an aplastic state as there would be no normal cells present in patients to repopulate the marrow.  Thus, there has been considerable debate about the potential use of lenalidomide as a treatment for DBA.


This all brings me back to this month's Journal Club paper, which again is from the laboratory of Ben Ebert.  In this study, Narla et al show that lenalidomide is capable of promoting erythropoiesis in human hematopoietic cells where the expression of Rps19 and Rps14 has been reduced to mimic DBA and 5q- syndrome, respectively 2.  Importantly, erythropoiesis is stimulated without promoting cell death, indicating that lenalidomide may work by stimulating erythropoiesis in cells haploinsufficient for ribosomal proteins rather than by promoting cell death.  These results provide a more solid scientific foundation for testing lenalidomide as a potential treatment for DBA. 


It is important to note, that these studies are carried out on cells in culture which may behave quite differently than in the complex cellular milieu found in the bone marrow of DBA patients.  Thus, the effectiveness of lenalidomide as a treatment for DBA can only be established through a carefully controlled clinical trial.  It should also be noted that this discussion has not dealt with the fact that lenalidomide is a derivative of thalidomide which has a notorious history associated with its use in humans.  While lenalidomide has been modified to avoid some of the adverse effects of thalidomide at least in animal studies, its potential use in DBA patients carries with it a number of inherent risks.  These important caveats aside, the results from the Narla study provide important new insights into the mechanism of action of lenalidomide.    


Disclaimer: This Journal Club article is intended to provide context for the scientific article discussed and is not meant in any way to advocate for specific clinical trials or provide clinical advice.  Please consult your physician to discuss these matters further.

1. Ebert BL, Pretz J, Bosco J, et al. Identification of RPS14 as a 5q- syndrome gene by RNA interference screen. Nature. 2008;451:335-339.

2. Narla A, Dutt S, McAuley JR, et al. Dexamethasone and lenalidomide have distinct functional effects on erythropoiesis. Blood. 2011 epub.