This work was co-funded by the European Regional Development Fund and the Republic of Cyprus through the Research and Innovation Foundation (Project: EXCELLENCE/1216/256)
An expanding resource for clinicians and researchers dealing with haemoglobinopathies integrating information on news, events, publications, clinical trials and haemoglobinopathy-related organisations and experts and, most importantly, databases of variations, epidemiology and HPLC diagnostic reports. Read more
Haemoglobinopathies are caused by mutations in the two globin gene clusters and are characterised by a reduced or absent synthesis of globin chains in the case of the thalassaemia syndromes, mainly α- and β-thalassaemia, or by defects in the haemoglobin protein structure in the case of structural haemoglobin variants, such as the Hb S that causes sickle-cell disease. Haemoglobinopathies are the most common monogenic diseases in the world and are prevalent in former malaria regions in the Mediterranean, the Middle-East, South-East Africa and Sub-Saharan Africa.
α-thalassaemia is characterised by a decrease or complete absence of expression from one or more of the four α-globin genes and may be brought about by a deletion or a nondeletion mutation in the α-globin genes.
β-thalassaemia is characterised by the reduced synthesis (β+) or absence (β0) of the β-globin chains in the Hb molecule, resulting in accumulation of unbound α-globin chains that precipitate in erythroid precursors in the bone marrow and in the mature erythrocytes, leading to ineffective erythropoiesis and peripheral haemolysis.
Sickle cell disease is caused by one particular mutation on the HBB gene, producing an abnormal version of β-globin known as haemoglobin S (HbS) which can distort red blood cells into a sickle shape. The sickle-shaped red blood cells die prematurely, which can lead to anemia. Sometimes the inflexible, sickle-shaped cells get stuck in small blood vessels and can cause serious medical complications.
Rare disease patient registry: | No |
Prevalence of sickle cell disease carriers: | 0.45 % of the population |
The Global Globin 2020 Challenge (GG2020), an initiative of the Human Variome Project, is officially linked to the ITHANET portal after review of all known existing databases in the field and with additional partnership through a shared ITHANET–GG2020 Expert Panel application for haemoglobinopathy-related variant classification under the Clinical Genome (ClinGen) Resource.
ITHANET is an active member of the European Reference Network EuroBloodNet for rare haematological diseases and is involved in the development of patient registries for the nonmalignant section of the network, namely the Rare Anaemia Disorders European Epidemiological Platform (RADeep)
The ITHANET portal has a long-standing and ongoing collaboration with the Thalassaemia International Federation (TIF), a worldwide patient organisation for thalassaemia and other haeglobinopathies.
Haemoglobinopathies are the world’s most common genetic defects with millions of carriers and patients. The ITHANET portal is an expanding community resource for clinicians and researchers dealing with haemoglobinopathies and has been established as an important tool for the research, prevention and diagnosis of haemoglobinopathies. ITHANET and its core databases of genetic variation-IthaGenes, epidemiology-IthaMaps, and diagnostic and clinical data-IthaChrom draw on the newest and best available knowledge to assist all relevant experts towards the effective and efficient management of haemoglobinopathies.
The main objective of the project is to strengthen the international role of the ITHANET portal as a reference point for haemoglobinopathy-related research, treatment and diagnosis and as a daily scientific resource for patients, carriers, and all those interested in haemoglobinopathies. Given its role as official partner of the Human Variome Project’s Global Globin Network for data storing, curation and sharing within and between countries and the coordination of the Haemoglobinopathy Expert Panel for the standardized annotation of variants that affect haemoglobinopathies, the project aims to:
Table 1: Work Package Table |
||||
No |
Title |
Person-months |
Start Date (project month) |
End Date (project month) |
WP1 |
Project Management |
3.1 |
1 |
36 |
WP2 |
Dissemination Activities |
7 |
1 |
36 |
WP3 |
Epidemiology |
27 |
1 |
36 |
WP4 |
Variant annotation and classification |
23 |
1 |
36 |
WP5 |
Genotype - Phenotype database |
21.5 |
1 |
36 |
Table 2: List of Deliverables |
|||||
No |
Title |
Relevant WP No |
Deliverable Type (Document, Report, Publication, Poster, Pilot, Prototype, Website, Video, Software, Database, Other) |
Classification of Dissemination (Public, Confidential) |
Deliverable Completion (Project Month) |
D1 |
MOU and IPA, governing the collaboration and the handling of project outcomes |
WP1 |
Other (Agreement) |
Confidential |
1 |
D2 |
Intermediate progress report, including financial report |
WP1 |
Report |
Public |
18 |
D3 |
Updated list of ITHANET contributors |
WP1 |
Webpage |
Public |
36 |
D4 |
Final progress report, including financial report |
WP1 |
Report |
Public |
36 |
D5 |
Minutes of scientific coordination meetings |
WP1 |
Document |
Confidential |
36 |
D6 |
Project’s website (as part of the extant ITHANET portal) |
WP1 |
Website |
Public |
3 |
D7 |
At least one article in lay journal/magazine |
WP2 |
Publication |
Public |
30 |
D8 |
Eighteen e-newsletters sent to ITHANET subscribers every two months |
WP2 |
Other (Newsletter) |
Public |
36 |
D9 |
At least three manuscripts ready for publication submitted to a preprint server |
WP2 |
Publication |
Public |
36 |
D10 |
At least five presentations regarding the outcomes of the project at national or international conferences |
WP2 |
Poster / Presentation |
Public |
36 |
D11 |
Documents relevant to the joint Scientific Information Day and the ITHANET workshop, including programme, list of participants, scientific presentations at the event and training material. |
WP2 |
Document |
Public |
36 |
D12 |
Disease-specific questionnaires for epidemiological data collection |
WP3 |
Document |
Public |
6 |
D13 |
List of experts to be contacted for data contributions |
WP3 |
Document |
Confidential |
6 |
D14 |
Upgrated IthaMaps database and interface |
WP3 |
Website, Database |
Public |
10 |
D15 |
First update of the IthaMaps content after incorporating data contributions, data from literature and demographic/migration data |
WP3 |
Website, Database |
Public |
24 |
D16 |
Final update of the IthaMaps content after incorporating data contributions, data from literature and demographic/migration data |
WP3 |
Website, Database |
Public |
36 |
D17 |
Web tool for visualisation of epidemiological information for informed decision making |
WP3 |
Website |
Public |
36 |
D18 |
Upgraded IthaGenes database and interface with additional sections and parameters |
WP4 |
Website, Database |
Public |
6 |
D19
|
Updated IthaGenes content, including additional annotation needed for variant classification |
WP4 |
Website, Database |
Public |
12 |
D20 |
First release of the online recommendation system for variant classification |
WP4 |
Website, Database |
Confidential |
18 |
D21 |
Final release of the online recommendation system for variant classification |
WP4 |
Website, Database |
Public |
22 |
D22 |
List of variants annotated by the Expert Panel submitted to ClinVar |
WP4 |
Document, Website, Database |
Public |
36 |
D23 |
Fully designed IthaPhen database with data insertion web interface and access control |
WP5 |
Database, Website |
Confidential |
12 |
D24 |
First update of the IthaPhen content after incorporating existing anonymised patient data and genotype – phenotype data from literature |
WP5 |
Database, Website |
Public |
24 |
D25 |
Final update of the IthaPhen content after incorporating existing anonymised patient data and genotype – phenotype data from literature |
WP5 |
Database, Website |
Public |
36 |
D26 |
IthaPhen search and visualisation interface |
WP5 |
Website |
Public |
36 |
This work was co-funded by the European Regional Development Fund and the Republic of Cyprus through the Research and Innovation Foundation (Project: EXCELLENCE/1216/256) |
|
Contributor | Date | Contribution |
---|---|---|
Youqiong Li | 27 Mar 2024 | IthaGenes |
Youqiong Li | 22 Mar 2024 | IthaGenes |
Yuanyuan Huang | 29 Feb 2024 | IthaGenes |
Youqiong Li | 15 Jan 2024 | IthaGenes |
Julio da Luz | 29 Dec 2023 | IthaGenes |