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!
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.
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
To stay connected and informed, It is very important that everyone
seeking supporters, sponsors, and
registers with the DBAF and keeps their contact information updated. To
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.
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
We are extremely grateful and proud of
our families' accomplishments and
commitment to finding a cause and a
cure for Diamond Blackfan Anemia.
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.
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.or
g
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
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
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 can 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
DBA Cookbook Orders
Contact:
Betty Lightner
betty.lightner@gmail.com
To download your order form:
http://issuu.com/bhivemom/docs/cook
book_order_form-pdf
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/Spanis
h/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
designed 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
This month's Journal Club is a puzzle.
Let us begin with a mouse model of βthalassemia intermedia, a hypochromic
Good Search/Good Shop
microcytic anemia caused by decreased
Raise money for DBAF just by
expression of β globin chains. These mice get
searching the web and shopping
anemic because without β chains to bind, α
online!
globin chains instead interact with one another
Steven R. Ellis, PhD
and precipitate within the red blood cell,
Research Director
Just download the GoodSearch causing red cell lysis and a hemolytic anemia.
Diamond Blackfan Anemia Foundation
Individuals with β thalassemia also display
- DBAF toolbar at
ineffective erythropoiesis with a subsequent enlargement of the spleen
http://www.goodsearch.com/toolbar/di
and iron overload caused by increased absorption of iron from the diet in
amond-blackfan-anemia-foundationaddition to any iron entering the body iatrogenically by repeated
dbaf
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
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synthesis of hemoglobin so high levels of hepcidin cause an ironrestricted 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, 44664477
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