Following the re-emergence of the potential role of KLF1 in globin gene control [see Singleton et al (2008), Borg et al (2010) and Arnaud et al (2010)] we are proposing a collaborative project through the ITHANET network intended to map KLF1 mutations and HbF levels including the Gγ ratio.

We would like to invite your participation in the project.

If you agree, you will be required to identify probands that might have the InLu type of the Lu(a-b-) blood group or have a blood count suggestive of thalassaemia (erythrocytosis and microcytosis) but with normal HbA2 and without a α globin gene mutation. Cases with unexplained persistence of HbF and Congenital Dyserythropoietic Anemia (CDA) may also be included.

For consistency, we ask you to send one blood sample for InLu typing to Dr. Belinda Singleton and Dr. Joyce Poole, and a second blood sample sample accompanied by a complete blood count for HbF profiling including the HbF%, the Gγ value and KLF1 sequencing to Dr. Joseph Borg. The referral forms and the shipping address can be found here: HbF Profiling, InLu Typing.

DNA shall be extracted from the blood sample for KLF1 sequencing, and genotyping at the currently known HbF QTL loci that include BCL11A and MYB SNPs. Material Transfer Agreement (MTA) forms shall be forwarded to all interested groups and collaborators for signature or may be downloaded from the ITHANET Portal. Participants in the project and any publication(s) arising from this project shall be duly acknowledged. Collaborators should obtain consent following their Institutional guidelines. A copy of the consent form used by us may also be downloaded.

The investigators that have data and wish to participate without sending samples may add their data to a dedicated repository that has been setup for the project against a username and password for the duration of the project. All data shall be deposited into the private repository until the study is completed and published with results in HbVar and/or LoVD databases being accessed by the public and scientific community. This repository currently resides within a private discussion group in the ITHANET Forum. In order to be a part of this project, please contact the ITHANET network.

Professor Alex. E. Felice
Laboratory of Molecular Genetics
Department of Physiology and Biochemistry,
BioMedical Sciences Building
University of Malta, Malta, MSD 2090

And,

Thalassaemia Clinic & Section of Genetics
Department of Pathology
Mater Dei Hospital, Malta, MSD 2620
Tel: (+356) 2340 2774, Fax: (+356) 2134 3535.