Issue: # 33 
October 2013 
In This Issue
It's Holiday Time
DBAF Funds "Our Rare Treasure"
Feinstein Institute to Receive $330,000
DBA Fact #11
Show Us Your Logo
Journal Club
Like Us and Follow Us

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.


   ornaments 13


The Dear Santa and Balloons ornaments  (both are available in brass or silver) will reflect the twinkling lights of the season and the sentiments of our hearts. 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 3 year old Mackenzie, at to place your order or for more information.
Holiday cards.
Watermark for display only
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 $10.00 per pack. For more information, please email Angela Isola, mom to 3 year old Matteo, at

There are limited quantities of all items, so order your cards and ornaments today! 


Thank you Singhas and Isola families for spreading some DBA cheer and supporting our mission!
Upcoming Events


DBA Craft/Bake Sale, Silent Auction & Blood Drive
October 25, 2013
Lillian Schumacher Elementary School
Liberty, MO 
Lea Ann Soto

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 giving...
Dawn Baumgardner 
  donation donation
5" x 5" Decals Available
Dawn Baumgardner 
  window sticker

7" x 5" Decals Available
David Voltz
Cure DBA decal_Voltz.  
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!   


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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
DBAF Funds "Our Rare Treasure"
Research Grant awarded to Steve Ellis, PhDSteve Ellis

The Diamond Blackfan Anemia Foundation (DBAF) is pleased to support the hard work and research efforts of Steven R. Ellis, Ph.D. at the University of Louisville. Dr. Steve Ellis' professional and personal commitment to DBA is immeasurable and deeply appreciated. Not only is Steve our dedicated (and unpaid) Research Director, who is working tirelessly behind the scenes, he also writes the DBAF's e-newsletter monthly Journal Club and his laboratory provides valuable research support services to the wider DBA Community. The DBAF is thrilled and humbled to award $20,000 to Dr. Ellis to continue to provide experimental services to clinicians and scientists worldwide who are in need of his laboratory's expertise in studying different aspects of ribosome synthesis relevant to DBA.

Steve stated, "I am extremely grateful for the support provided by the DBAF which allows me to continue to assist different groups in our efforts to understand the biological basis for DBA and how we can use this information to improve the quality of life of those affected by this disease." 


Jeffrey Lipton, M.D., Ph.D. is the Director of the Hematology/Oncology and Stem Cell Transplantation at Steven and Alexandra Cohen Children's Medical Center of New York, a Professor of Pediatric and Molecular Medicine, Hofstra North Shore-LIJ School of Medicine and a longtime DBA clinician, researcher and expert in the field.  Dr. Lipton commented,


Feinstein Institute to Receive $330,000
Dr. Sharon Singh    Dr. Johnson Liu

St. Baldrick's Foundation Awards DBA Research Grants 


The Feinstein Institute for Medical Research announced on September 17, 2013 it will receive $330,000 in grants aimed at gaining a better understanding of a pediatric cancer syndrome called Diamond Blackfan anemia. The grants were awarded by the St. Baldrick's Foundation, a volunteer-driven and donor-centered charity dedicated to raising money for childhood cancer research. It will support the work of a Feinstein Institute physician-researcher and consortium.

Sharon Singh, MD, will receive $230,000 to support her research project focused on Diamond Blackfan anemia. Diamond Blackfan anemia is an inherited condition that leads to anemia, possible birth defects and cancer. Dr. Singh's team is working to understand the conditions that promote the formation and survival of cancer cells in this syndrome, to improve early diagnosis and treatment of childhood cancer.



Our Facebook Page and website post DBA Facts submitted by DBA nurse, Ellen Muir, RN, MSN, CPON. We are pleased to share these facts with our patients and families. Special thanks to Dr. Adrianna Vlachos for her continuous direction and input.  


Transplant Glossary:

  • Autologous transplant - bone marrow or stem cells are taken from the patient and given back (transplanted) to themselves after chemotherapy and/or radiation therapy is given
  • Allogeneic transplant - bone marrow, stem cells or cord blood are taken from another person (donor) and transplanted after chemotherapy and/or radiation therapy is given to the patient (recipient)
  • Preparative chemotherapy and/or radiation therapy - the regimen given to destroy the recipient's bone marrow prior to the transplant thus making way for the new cells of the donor. There are different types of regimens to prepare the patient for the transplant:
    • Myeloablative - these regimens contains high doses of chemotherapy and/or radiation that will destroy the bone marrow of the patient and allow new donor stem cells to grow in the bone marrow
    • Reduced Intensity or Non-myeloablative - these regimens use lower doses of chemotherapy and/or radiation and use increased doses of transplant anti-rejection drugs (immunosuppressive) medications

Q:  What is a "mini-transplant"?

A:  "Mini-transplant" refers to the type of preparative regimen a patient receives before he/she undergoes a stem cell/bone marrow transplant. A "mini-transplant" is also called a non-myeloablative or reduced-intensity transplant and is a type of allogeneic transplant.

A "mini-transplant" uses lower, less toxic doses of chemotherapy and/or radiation to prepare the patient for an allogeneic transplant. The use of lower doses of chemotherapy and radiation eliminates some, but not all, of the patient's bone marrow. It also suppresses the patient's immune system to prevent rejection of the transplant.  

Unlike traditional myeloablative transplant, cells from both the patient and the donor may exist in the patient's body for some time after a "mini-transplant." Once the cells from the donor begin to engraft, they may destroy the remaining patient cells that were not eliminated by the chemotherapy and/or radiation.  

Using lower doses of chemotherapy and/or radiation has allowed older patients, and patients with other health problems to have a transplant. "Mini-transplants" tend to have lower occurrences of early transplant-related complications and death. However no transplant is without risk. This type of transplant can be associated with long-term effects of graft-versus-host disease (GVHD), side effects of the treatment, resulting in other complications and serious infections.  

This approach does allow the application of a potentially curative procedure to elderly or medically infirm patients who would not otherwise tolerate high-dose preparative regimens.

Show Us Your Logo

Nathaniel Boatman from Tupelo, MS is expressing himself through his awesome artwork and we appreciate his important message!  The 8 year old's mother, Victoria, commented. "Nathaniel has been exploring ways to talk about his DBA when people ask why he's small or misses school. He's trying to view it as a positive in his life rather than a limitation."

Here's the challenge: 

We would like to see how many places we can show

logooff 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 to

Journal Club

Diminutive: exceptionally or notably small (Merriam Webster on-line free dictionary)

Steve Ellis
Steven R. Ellis, PhD
DBAF Research Director

Diminutive, interesting word, not one you hear very often in the scientific lexicon.  So why my interest in the word diminutive?  My interest was piqued by the presence of this word in the title (Diminutive somatic deletions in the 5q region lead to a phenotype atypical of classical 5q- syndrome) of a recent report in the journal Blood (Vlachos et al., 2013).  The article discusses two patients: patient 1 was diagnosed with Diamond Blackfan anemia and has been receiving transfusion therapy for the past 20 years, whereas patient 2 was diagnosed with myelodysplastic syndrome and received a bone marrow transplant.  Both patients had atypical presentation for their respective diagnoses; but given the clinical variability observed in both diseases, atypical presentations don't seem all that atypical anymore.


As any reader of the DBAF Newsletter is aware, there are tremendous efforts underway at numerous sites to identify the genes affected in each and every patient with DBA.  These efforts have gone beyond sequencing genes encoding ribosomal protein to sequencing entire genomes.  Moreover, since not all patients have mutations that can be identified by DNA sequence analysis, researchers have developed increasingly sophisticated methods to scan whole genomes for increasingly small deletions.  Such diminutive deletions are the centerpiece of the report in Blood.


The first patient was diagnosed with DBA in 1991 at 5 years of age.  The age at which she was diagnosed was unusual, as most patients with DBA are diagnosed in the first year of life.  This child, now an adult, was not responsive to steroids and had received monthly transfusions since her diagnosis.  Despite being in the DBA Registry for years, the gene affected in this patient was unknown and so investigators continued to hammer away at her genome trying to unlock the secrets held within.  It was deletion analysis that ultimately led to that eureka moment
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