Please send your inquiries regarding clinical matters to any of us in the meantime. We will let you know once we have chosen a new DBA Nurse. Our number remains 516-562-1504 or 516-562-1505. Our toll-free numbers are 1-888-884-DBAR (3227) and 1-877-DBA-NURS (1-877-322-6877).

Your DBA Team,

Adrianna Vlachos, MD
Jeffrey M. Lipton, MD, PhD
Johnson M. Liu, MD
Eva Atsidaftos, MA, CCRC

It's the last week in April. The grass is green, the sky a deep blue, birds chirping and rabbits hopping to and fro in search of early season plantings. This time of year has a special meaning for those of us here in Louisville, Kentucky.  Pollen!  Well, yes: we were just given the dubious distinction of America's #1 city for allergy suffers, and not in a good way. More importantly for Louisvillians, is that the last week in April transitions to the first Saturday in May and the Kentucky Derby! The city is, and has been, in a flutter with events spreading over three weeks in what is known as the Kentucky Derby Festival. These events include art shows, balloon and steamboat races, a marathon, a parade, the Kentucky Oakes, Derby Eve festivities (loaded with celebrities), and of course, the Derby itself. 

I, like many others in the city, have been caught up in these events if for no other reason than the extra time it takes to get from here to there with all the traffic congestion and re-routing that comes with masses of people coming together for a good time. An obvious question at this point is what has all this got to do with readers of this column living their lives well outside of Louisville and its immediate surroundings: nothing really, other than to state that this will be a relatively short column covering a relatively short paper¹.

While the paper may be short in length, it is nonetheless of critical importance to transfusion-dependent DBA patients and their families.  Dr. Thomas Coates spearheaded these studies.  If his name sounds familiar, it should, as I mentioned this work in my summary of the DBA ICC held in 2012. Since the work presented at ICC conferences is unpublished, my descriptions have to be painted in broad strokes to avoid releasing privileged information and allowing investigators the freedom to share work fresh from the lab bench without fear of having their work jeopardized by premature discloser. This tempered approach ends when a paper gets published.

The studies from the Coates laboratory investigate iron loading in different tissues in various cohorts of patients receiving regular transfusions. The authors used Magnetic Resonance Imaging (MRI) as a non-invasive method to monitor iron in the liver, pancreas, and heart in chronically transfused patients. The bottom line from these studies you've heard before: patients with DBA load iron differently than many other patients: doing so rapidly and early in the course of receiving transfusion therapy. The manuscript provides the details on which this statement is based.  

One hundred and twenty five children were included in this study.  Of these, 17 had DBA.  Other diseases represented were sickle cell, thalassemia major, congenital dyserythropoietic anemia (CDA), pyruvate kinase deficiency, and others including children being transfused after cancer treatments.  The initial iron measurements were carried out as early as ~22 months in the DBA cohort with a mean age of first MRI at 3.8 years.  While all patients showed the presence of liver iron at an early age, patients with DBA were notable in this study for highest percentage of patients with the presence of pancreatic and cardiac iron at the time of the first MRI, including a patient presenting with cardiac iron at the age of two.  

These studies provide a detailed documentation of iron loading in DBA patients relative to other patients receiving chronic transfusions.  They provide the numbers supporting the largely anecdotal views that DBA patients load iron differently than other patients receiving chronic transfusions; including both rapid and early accumulation of tissue iron in the pancreas and heart, in addition to the liver.  They build on an earlier report on Italian DBA patients that focused predominantly on liver iron, which supported the same conclusion2.  

While the Coates study does not provide the mechanism by which DBA patients load iron differently from many other patient cohorts receiving chronic transfusion, they do underscore the need for regular surveillance of tissue iron in DBA patients and aggressive chelation therapy; points made time and time again at Camp Sunshine and other DBA venues.   

With respect to monitoring iron levels in the body, Dr. Coates has an additional, more recent publication on the use of ferritin as a measure of tissue iron3. His conclusions on using ferritin as a measure of tissue are similar to points of emphasis made by Dr. Lawrence Wolfe on several occasions.  I think it is worthwhile to quote Dr. Coates directly on this subject, "While ferritin is a convenient measure of iron status; ferritin trends were unable to predict changes in LIC in individual patients. Ferritin trends need to be interpreted with caution and confirmed by direct measurement of LIC." 

LIC = Liver Iron Concentrations

1. Berdoukas, V., Nord, A., Carson, S., Puliyel, M., Hofstra, T., Wood, J., and Coates, T.D. (2013). Tissue iron evaluation in chronically transfused children shows significant levels of iron loading at a very young age. American journal of hematology 88, E283-285.

2. Roggero, S., Quarello, P., Vinciguerra, T., Longo, F., Piga, A., and Ramenghi, U. (2009). Severe iron overload in Blackfan-Diamond anemia: a case-control study. American journal of hematology 84, 729-732.

3. Puliyel, M., Sposto, R., Berdoukas, V.A., Hofstra, T.C., Nord, A., Carson, S., Wood, J., and Coates, T.D. (2014). Ferritin trends do not predict changes in total body iron in patients with transfusional iron overload. American journal of hematology 89, 391-394.