Small Study Group D Report from Benin Workshop

Genetic Factors Involved in Phenotypic Diversity: Global Approach

Co-Chairs: Carolyn Hoppe (USA) and Tom Vulliamy (UK)

What has been the participants’ experience with SCD?

To answer this question, several other questions were posed including:

Example of phenotypic diversity: in Kuwait, despite a high expression of Hb F in all patients with the Arab/Indian haplotype, a sub-group (10-15%) of patients regularly present with vaso-occlusive pain episodes.

Barriers to defining phenotypes include:

Conclusions:

What research questions need to be answered?

What facilities are necessary to study genetic factors affecting phenotypic diversity?

What potential does a global network offer for these studies?

The global network could: