banner
Issue #6  March 2011
In This Issue
Walk or Run!
How Important Are You?
Show Us Your Logo!
CDC News
DBAF Journal Club

Walk or Run!

Buckmasters

Many many thanks to Jacob and Scarlett Buckmaster for hosting a 5K Run/Walk to benefit the Diamond Blackfan Anemia Foundation. Jacob was diagnosed with DBA at 7 days old and he and his lovely wife, Scarlett, are seeking supporters, sponsors, and participants.

The event will take place on Saturday, April 23, 2011 in Republic, Missouri. For more information, visit
www.DBABenefit.web.officelive.com

The Buckmasters would like to give our families the opportunity to show your support by "getting on their backs!" For $20.00 they will include your DBA fighter's name on the back of the t-shirt and will send you a shirt.  Each additional shirt is $15.00. 
If you are interested, please email Jacob and Scarlett at dbabenefit@att.net.

We are extremely grateful and proud of our families' accomplishments and commitment to finding a cause and a cure for Diamond Blackfan Anemia.  

THANK YOU BUCKMASTERS!



Upcoming Events
 
DBA Galactic Bowl Fundraiser
March 26, 2011
Starlite Lanes
Grand Haven, MI
Contact:
Justin & Tammi Lanore
jjlanore@verizon.net


DBA 5K Walk/Run
April 23, 2011
Republic Parks & Recreation Center
Republic, MO
Contact:
Jacob & Scarlett Buckmaster
dbabenefit@att.net
417.693.1079


DBA Family Day - Washington 
April 30, 2011 
Seattle Children's Hospital
Seattle, WA
Contact: 
Kathleen McGregor
kathleen.mcgregor@seattlechildrens.org
206-987-7021

 


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

Contact:  
Jim and Carol Mancuso
c-mancuso@sbcglobal.net



ONGOING:

Wristbands Available
 
Contact:
Twila Edwards
twilak@cox.net 


DBA Cookbook Orders
Contact:
Betty Lightner
betty.lightner@gmail.com
To download your order form:

http://issuu.com/bhivemom/docs/cookbook_order_form-pdf


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 http://www.goodsearch.com/toolbar/diamond-blackfan-anemia-foundation-dbaf

   

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 DBAFoundation@juno.com.
  How Important Are You?
 
That is an easy question to answer!  Each and every DBA patient and family is EXTREMELY important for many different reasons. We all understand how rare DBA is and the challenges of living with a rare disorder.  With an incidence of approximately 7 new cases per 1 million live births, that not only makes us rare, it makes us important and special!  It also presents our families with added responsibilities.

The Diamond Blackfan Anemia Foundation (DBAF) is committed to DBA patients, families, and research.  Your partnership with us is essential to the DBAF's success and growth.  With your support, we are able to fund   independently reviewed and approved research projects from around the world and provide information and support to our patients and families. We rely on you for your important financial support and your involvement. The number of families that regularly partner with us, as well as those who have taken on their first fundraising activity, continues to grow.

Your commitment to our mission is truly appreciated.

To stay connected and informed, It is very important that everyone registers with the DBAF and keeps their contact information updated. To register or update your information with the DBAF click here for our website's registration form.  If you have any questions about the DBAF, or the status of your contact information, please call Dawn Baumgardner at 716.674.2818 (Eastern time).

 

DBA patients are also encouraged to participate in various registries. Registries, including the Diamond Blackfan Anemia Registry (DBAR), the National Cancer Institute's registry for Inherited Bone Marrow Failure Syndromes (IBMFS), and a new surveillance initiative being conducted by the Centers for Disease Control and Prevention (CDC) ,seek our families' participation. Admittedly, the many different registries can become confusing and time consuming, but the benefits of each are outlined by the respective organization.  In order to assist in their efforts to learn more about DBA and/or possibly secure research dollars, you are encouraged to investigate these opportunities. The DBAF can assist you if you have questions regarding these studies. Because of our small numbers, everyone's information is statistically important.

 

YOU are important to the DBA world, and especially important to the DBA Foundation. It is our privilege to be a part of your lives and our passion is to assist you on this journey. We encourage you to contact us and to get involved.  It is our sincere intent to educate, to inform, to empower, to support, and to connect you with the entire DBA community. We understand  and appreciate each family's right to privacy and unconditionally respect those rights.   

 

The Diamond Blackfan Anemia Foundation sincerely thanks all of you, our special and exceptionally important patients and families, for making our Foundation a true family affair.  We are grateful for each of you!   


Take the Challenge ~ Show Us Your Logo 

NY DBA Day Docs
 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. Thank you all for your support!!

 Dr. Adrianna Vlachos, Dr. James Stelling, Dr. Johnson Liu, Dr. Jeffrey Lipton, Eva Atsidaftos, and Ellen Muir  are looking good in their "DBA Hero" lab coats. We are grateful for their hard work, dedication, and commitment to our patients and families.
 
Here's the challenge:  we'd like to see how many places we caDBAF  Logon show off our logo!  Take a picture of you and 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 DBAFoundation@juno.com. 

                    CDC News

Please help spread the word to all our DBA Spanish speaking families. The CDC's DBA web pages are now available in Spanish. I am certain this will help give much-needed information to many of our families and friends! http://www.cdc.gov/ncbddd/Spanish/dba/index.html

As a DBA patient, or a caregiver of a DBA patient, keeping medical records, appointments, questions, and pertinent information accessible and organized is often an overwhelming task. To assist our patients and families, a Care Notebook designedCDC specifically for DBA patients is available! These materials were created by the Centers for Disease Control and Prevention (CDC) in collaboration with doctors, nurses, other professionals, and DBA families and are being distributed by the Diamond Blackfan Anemia Foundation.  If you are interested in having one of these binders, please contact Dawn at 716.674.2818 (Eastern time) or by email at dbaumgardner@dbafoundation.org.
 Journal Club 
 
Steve Ellis
Steven R. Ellis, PhD
Research Director

This month's Journal Club is a puzzle. 

 

Let us begin with a mouse model of β-thalassemia intermedia, a hypochromic microcytic anemia caused by decreased expression of β globin chains.  These mice get anemic because without β chains to bind, α globin chains instead interact with one another and precipitate within the red blood cell, causing red cell lysis and a hemolytic anemia.  Individuals with β thalassemia also display ineffective erythropoiesis with a subsequent enlargement of the spleen and iron overload caused by increased absorption of iron from the diet in addition to any iron entering the body iatrogenically by repeated transfusions.  The puzzle arises from a recent manuscript by Gardenghi et al. (see below) which shows that treating the microcytic hypochromic anemia in this mouse model by inducing a different microcytic hypochromic anemia improves the original anemia.  So, how could this be, and more importantly, what is its relevance to DBA?

 

Let me begin with the "How could this be?"  Gardenghi et al. treated the β thalassemic mice with hepcidin, a small peptide that reduces the amount of iron in the circulation.  Hepcidin accomplishes this by blocking iron absorption from the gut and preventing iron release from cells.  As iron in the circulation decreases, there is less iron available for the synthesis of hemoglobin so high levels of hepcidin cause an iron-restricted microcytic hypochromic anemia in normal mice.  The goal of the study by Gardenghi et al was to reduce iron overload in β thalassemic mice by blocking iron absorption from the gut.  The goal was met very effectively.  The surprise however, was that increasing hepcidin and restricting iron also improved the anemia.  They explained this improvement by hypothesizing that iron restriction reduced heme levels, which in turn, would have a negative impact on globin synthesis.  A reduction in globin synthesis would reduce the amount of toxic α globin aggregates, thereby increasing the life of red blood cells and decreasing ineffective erythropoiesis. 

 

So what is the relevance of these observations to DBA?  Well, perhaps nothing.  The anemia in DBA is caused by mechanisms quite distinct from that in thalassemia with iron overload predominantly arising from transfusion therapy as opposed to ineffective erythropoiesis.  BUT, studies by Dr. Janice Abkowitz's group in Seattle have suggested that the loss of red blood cell progenitors in the marrow of DBA patients may be the result of heme toxicity caused by an effect of decreased ribosome production on the synthesis of globin proteins.  If her hypothesis is ultimately proven to be correct, then one way to reduce heme toxicity might be to reduce iron levels within the body.  While this extrapolation to DBA is merely conjecture at this point, this may eventually provide yet another reason for iron chelation in DBA patients. 

 

Gardenghi S, Ramos P, Marongiu MF, Melchiori L, Breda L, Guy E, Muirhead K, Rao N, Roy CN, Andrews NC, Nemeth E, Follenzi A, An X, Mohandas N, Ginzburg Y, Rachmilewitz EA, Giardina PJ, Grady RW, and Rivella S. 2010 Hepcidin as a therapeutic tool to limit iron overload and improve anemia in β-thalassemic mice.  J Clin Invest. 120, 4466-4477

 

 Keel SB, Doty RT, Yang Z, Quigley JG, Chen J, Knoblaugh S, Kingsley PD, De Domenico I, Vaughn MB, Kaplan J, Palis J, and Abkowitz JL. 2008 A heme export protein is required for red blood cell differentiation and iron homeostasis. Science 319, 825-828