Albertine Donker

General Discussion 309 9 LOOKING FORWARDS: FUTURE PERSPECTIVES Biobanking is a promising tool in unrevealing the pathogenesis of rare genetic anemias and improving the clinical care of the involved patients In 2009, Time Journal published an article entitled ‘10 ideas changing the world right now; number 8: Biobanking’. 22 Ten years later, biobanking has indeed brought a lot of discoveries and new knowledge in the whole process of medical research in the twenty-first century. 23,24 The collection of bio-specimens along with clinical data in biobanks facilitates the stratification of patients with the same disorder, accelerating the new area of personalized medicine from curing to prevention. 23 The upcoming of the science of biobanking is of great importance against the background of the limitations of this thesis as mentioned above; the retrospective design of our case series and the small study populations of predominantly Western- European descent. Therefore, a first suggestion to allow future research, from bench to bedside, would be the establishments of a European and ultimately international biobank of patients with a diagnosed or suspected microcytic anemia due to a genetic defect of iron homeostasis or heme synthesis. Such a biobank, comprising both biomaterial, demographic and clinical data, will enable the assessment of the natural course of these anemias for a broad population, the identification of disease- modifying genetic and environmental factors and hopefully the development of effective treatment regimens. International biobanking might also help in identifying epidemiologic differences in the prevalence and incidence of diseases between various populations across the world and the underlying pathophysiological mechanisms for such differences. To date, 115 IRIDA patients in 85 families have been described worldwide, harboring 78 different TMPRSS6 variants. 2,25-27 Forty-one out of these 115 patients are Dutch inhabitants ( Chapter 4 2 , Chapter 8 ), which raises the question whether IRIDA is associated with ethnicity or whether IRIDA is an under- diagnosed disorder. Furthermore, 5 out of the 21 patients who are described in detail in Chapter 4 2 were immigrants with a Mediterranean origin, e.g. Morocco and Turkey. In addition, according to the literature, many IRIDA cases with a pathologic TMPRSS6 defect are from thalassemia or malaria endemic regions. 1,25,28 This might suggest a survival benefit for the combination of thalassemia (carrier ship) and TMPRSS6 defects, which might result in a higher incidence of IRIDA in thalassemia endemic regions. Possible explanations for this hypothetical relation are the findings that low