The overarching goal of this project is to develop and implement a web based decision aid individualized to patient characteristics to help patients with SCD achieve more accurate perception of risks and benefits of treatment options and make decisions in congruence with their values and preferences.

The investigators will conduct needs assessment interviews as indicated by the data for saturation and validation of findings. The investigators will conduct beta testing of the web-based decision aid to clarify development and validate findings. The investigators will use a randomized controlled trial of the effectiveness of a web-based decision aid to give patients accurate information about risks and benefits of therapies and enable them to make decisions based on their individual values and preferences. To provide accurate information to patients and caregivers about the risks and benefits of various treatments for sickle cell disease and to enable them to make informed and involved therapeutic decisions based on their values, preferences and stated goals.

More information: clinicaltrials.gov, ITHANET Clinical Trials

The improved long-term survival of thalassemia major (TM) patients has resulted in increased focus on the ability to preserve fertility. While the association of iron toxicity with vital organ dysfunction, heart and liver, has been extensively investigated, the correlation of reproductive capacity and extent of iron overload is not well understood. Despite remarkable progress in methodology for prediction of reproductive status and intervention for preserving fertility, implementation in thalassemia is lacking.

The investigators hypothesize that iron toxicity to the anterior pituitary occurring in the process of transfusional iron loading is directly associated with a decline in gonadal function. The investigators expect pituitary MRI measurements of iron deposition as well as markers of oxidative damage to correlate with the functional studies of pituitary-gonadal axis performed in this study. This cross sectional study will examine the relation of pituitary iron deposition and pituitary volume; serum iron and oxidative stress measures, liver iron concentration (LIC), cardiac iron and chelation adequacy with pituitary and gonadal reproductive hormone levels (and spermatogenesis in adult male patients), in order to better define the association of iron burden and chelation patterns with fertility potential, in thalassemia patients with iron overload. The study will assess whether the current chelation treatment regimens, in particular during the pubertal developmental age, are adequate for preserving fertility and could lead to improved chelation routines for preventing the high prevalence of compromised fertility. In addition, by utilizing state-of-the-art markers for fertility status, findings from this study may improve current methods for screening for hypogonadism and reproductive potential and allow earlier intervention.

The investigators propose to examine 26-30 patients, 12 years and older, with measures of fertility potential, and correlate them to their current iron burden parameters and to the cumulative iron effect as indicated by past iron overload patterns and chelation history.

More information: clinicaltrials.gov, ITHANET Clinical Trials

ENERCA has recently published the "The ENERCA White Book - Recommendations for Centres of Expertise in Rare Anaemias", a position paper, developed as a deliverable of the ENERCA 3 project that intends to contribute to the creation of a European Reference Network in Rare Anaemias (ERN-RA) by preparation of the recommendations and, in particular, the definition of the criteria that Centres of Expertise (CoE), local centres (LC) and their interrelations have to fulfil as healthcare providers. It has been nourished by all the activities that have been performed over the past ten years within the ENERCA framework. The White Book is addressed to authorities in charge of the identifying CoE, as an essential requirement for the official recognition of the ERN, to European and national health authorities, Healthcare centres and health professionals, as well as to all other stakeholders interested in RA. It is also addressed to the patients, as a way to empower their community in this process.

More information: ENERCA announcement, The White Book (PDF document)

This research study has two purposes:

1. 1. The first purpose is to determine whether having sickle cell trait (SCT) is a risk factor for the development of bone thinning at an earlier age than expected. Nearly 10% of African Americans (AA) carry sickle cell trait and most of them are unaware of it. African Americans are less likely to develop thin bones than whites, but if they sustain a bone fracture, they are more likely to die from it. The researchers of this study believe having SCT may lead to bone thinning and predispose a subset of African Americans to dangerously thin bones.
   2. The second purpose is to try to understand why individuals with sickle cell disease (SCD) have thinner bones than healthy individuals do. Doctors have already discovered that people with sickle cell disease have very thin bones, but they have not determined why. This study will try to identify whether the bone thinning is from the body not making enough bone or from the body losing bone once it is made.

   More information: clinicaltrials.gov, ITHANET Clinical Trials