Issue: # 43
October 2014 
In This Issue

20 Years and Going Strong! 

It is hard to believe that we are closing in on the end of our 20th year. With the sweat and tears, dedication and hard work, sacrifices, commitment, and generosity of our families, friends and supporters, the Diamond Blackfan Anemia Foundation has accomplished many things over two decades. 

This past year, we have adopted our new Mission Statement:

 The mission of the Diamond Blackfan Anemia Foundation is to advance research initiatives that promote a better understanding, therapeutic strategies and a cure for this rare bone marrow failure syndrome. We are dedicated to providing patient advocacy, support and education services to individuals, families and medical professionals resulting in improvements in the diagnosis, clinical treatment and management of the disorder, while enhancing the quality of life of affected families worldwide.

We have funded major research projects, sponsored and co-sponsored numerous scientific meetings, sponsored international family retreats, attended ASH conferences and provided educational materials to medical professionals.

Above all, our goal is to serve our families. We are grateful for your involvement and appreciate the opportunity to connect with you. You are encouraged to reach out to us. We would love to hear from you!
Dawn Baumgardner


Upcoming Events

Friends of DBA 

Night at the Races
February 20, 2015
Weymouth Country Club
Medina, OH
Jim & Carol Mancuso

In Honor of Audrey
March 14, 2015
St. Edward Parish and School
Jeffersontown, KY
More information: 
Coming Soon 

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" Stickers Available
Dawn Baumgardner 
  window sticker


7" x 5" Decals Available
David Voltz
Cure DBA decal_Voltz.  
Cookbooks Available  
Betty Lightner  
To order online, visit:
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AmazonSmile Program
You Shop... Amazon Gives!
If you shop on Amazon, please log in using, select Diamond Blackfan Anemia Foundation as your charity, and shop as usual. Amazon will donate .05% of your purchase to the DBAF.
Good Search/Good Shop  
Raise money for DBAF 
just by searching the web and shopping online!   


Quick Links
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
Genetic Testing - Why it Matters

The Diamond Blackfan Anemia Foundation (DBAF)

Geneshas funded several "Gene Discovery" research projects over the past several years and efforts continue to identify additional mutations and deletions responsible for Diamond Blackfan Anemia. To date, approximately 60-70% of DBA cases have been associated with a known genetic mutation or deletion.

Gene discovery not only has the potential to lead to new therapeutic treatments, it is also vital to patient care. Initially it was thought that the vast majority of the DBA cases reported to the Diamond Blackfan Anemia Registry (DBAR) were sporadic, that is "a genetic disorder that occurs for the first time in a family due to a new mutation."  However, with the discovery of numerous published DBA genes, family studies have identified a higher-than-expected proportion of individuals carrying the gene mutation, without ever being anemic or requiring treatment.  These individuals may have mild, if any, hematologic manifestations with or without DBA-associated congenital anomalies. Identification, in a timely fashion, of inherited cases within a family is imperative so that appropriate reproductive and, when applicable, stem cell transplant choices can be made.  For example, asymptomatic siblings or parents can be counseled as to the risk of having an affected offspring, and asymptomatic, yet genetically affected siblings, would be identified as unacceptable stem cell transplant donors for DBA patients.

For patients and families not knowing their genetic mutation, testing is available commercially and can be ordered by your hematologist. In most cases, the testing is paid for by your insurance company (Medicaid will also be accepted for many states.). Ambry Genetics is one commercial lab that is testing for 11 known DBA genes. A complete listing of the genes Ambry tests for, along with additional information regarding the disorder and test description can be found at 

What is PGD?
An option for some of our DBA families

As more scientific discoveries are made and technological capabilities evolve, more and more options will become available in diagnosing, 
treating and preventing medical conditions. Some of these advances will have the potential to make an impact on our DBA patients' and families' lives; some will be controversial. PGD is one of the technologies that has been utilized by some of our families.

Preimplantation genetic diagnosis (PGD) is a procedure used prior to implantation to help identify genetic defects within embryos created through in vitro fertilization to prevent certain diseases or disorders from being passed on to the child. PGD can also be used to help determine the HLA type of a healthy embryo.

A recent segment on CBS news program, 60 Minutes, focused on this technology. PGD is an option for some of our patients and families to explore while making reproductive and stem cell transplant decisions. To learn more, visit: 
time DBA researcher, Dr. Stefan Karlsson. Professor Stefan Karlsson and his collaborators have been awarded the prestigious Knut and Alice Wallenberg grant for research projects with high scientific potential 2014. 

 Many of our families have met Dr. Karlsson at Camp Sunshine and the DBAF has proudly supported his early work. Many thanks and congratulations. 
Where Are You ?
Help Us Keep in Touch

Did you move? Need to add a new address, phone number, email address? Are you a recently diagnosed family?

Please help us keep our records current! Take a moment to visit our website and fill out the registration form. Patient/Family Registration Form 

Help us to reach all our families.
If you are aware of other DBA families in your area, please encourage them to contact the DBA Foundation.

Please note that the Diamond Blackfan Anemia Registry (DBAR) and the Diamond Blackfan Anemia Foundation (DBAF), are not allowed to share your personal information.  It is necessary to register with both the DBAR and the DBAF.

If you have any questions, or to check on the status of your information, contact Dawn at 716.674.2818 or 

Show Us Your Logo

Many thanks to David and Brandi Voltz for initiating a hoodie fundraiser to benefit the DBA Foundation. A total of 360 sweatshirts were ordered and the DBAF will receive $4,730. Here's the winner of our Facebook sweatshirt giveaway... Congratulations, Sarah! Be sure to like us on Facebook and remember to click "Get notifications" so you don't miss any posts.

Here's the challenge: 

We would like to see how many places we can show off our logo!

logoSnap 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

Journal Club

Hey, you out there,

raise your hand if you've heard of soluble transferrin receptors.  
Steve Ellis
Steven R. Ellis, PhD
DBAF Research Director

OK, OK, hematologists lower your hand.  Yes, you've probably ordered soluble transferrin measurements at some point in your life to distinguish between iron deficiency anemia and anemia of chronic disease. You guys (or y'all as we say here in the South-ish) can sit this one out for a bit while the rest of us come up to speed on the subject.

Receptors are proteins that are typically found embedded in the surface of cells and their role is to recognize and bind things.  Once bound to these things, the receptor may transmit signals to the inside of the cell causing some type of cellular transformation, as in a hormone receptor.  Alternatively, once the receptor binds to its thing, both the thing and the receptor can be brought into the cell and in this way receptors are used as a means of delivering certain cargos to cells; as is true for transferrin receptors.

As their name implies transferrin receptors recognize and bind transferrin.  But it is not transferrin per se that cells covet, but the iron bound to the transferrin.  Transferrin, as the name "trans-ferrin" implies, plays an important role in transporting iron within the blood.  Under normal circumstances this could be dietary iron taken up from the gut, which is transferred by transferrin to erythroid progenitor cells where it would be used for the synthesis of hemoglobin.  For these precursors to take up iron/transferrin complexes, the progenitors must have transferrin receptors on their surface.  Once internalized, the iron is released from transferrin and used for hemoglobin synthesis.  Iron taken into cells that is not used for specific purposes like hemoglobin production can be stored bound to the protein ferritin.

As important as transferrin receptors may be on the cell surface, our interest here is on soluble transferrin receptors (because they are easier to measure).  Soluble transferrin receptors are derived from receptors on the cell surface by having the bonds that anchored them to the cell surface cleaved by some unknown assailant.  These soluble transferrin receptors, as far as I know, have no known biological function in the circulation.  Nevertheless, their measurement is used clinically as a substitute for ferritin measurements to monitor iron levels in individuals with chronic inflammation where ferritin measurements are of little value (ferritin measurements of dubious value in monitoring iron levels, sound familiar???).

Our focus on soluble transferrin receptors arises from a recent publication in the British Journal of Hematology1This manuscript addresses a topic of immense importance to transfusion-dependent DBA patients and their families: iron overload and its complications.

I have discussed the problem of iron overload in transfusion-dependent DBA patients many times in this forum.  We have discussed:

  • that iron overload and its complications are a significant cause of morbidity and mortality in DBA patients (April, 2012).
  • the basic science underlying iron uptake and disposition in the human body (August, 2013).
  • that there appears to be something different about the way DBA patients load and store iron relative to other patients receiving a similar number of transfusions (April, 2014).
  • and the need for further understanding of iron loading in DBA patients and whether strategies can be developed to reduce the risks and improve outcomes for transfusion-dependent DBA patients (all of the above).
The encouraging news on these fronts is that there have been several papers published the last year or two that have begun to take a serious look at iron loading in DBA patients, 
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