Rare Anaemias
This is a list of illnesses together with their synonyms (when known to us) in alphabetical order.  We have tried to describe the anaemias clearly and simply.  If you do not find it clear and simple, please let us know so that we can improve on it.

Expert Centres
A list is provided for each country, organised by city, to offer more options to the patient. These centres offer specific laboratory tests to facilitate or confirm diagnosis. They may choose to contact a different centre to ask for further information, clarification or advice. Alternatively, they may want to find a centre nearer their home.

Patient Associations
In this part, the official and non-official organisations for each country are detailed (these could be official bodies, support groups for parents, charities, associations, etc.). They are also organised by country. The aim is to offer a full range of information sources to the patient.

MAC (Medical Alert Card)
The Medical Alert Card has brief information on a patient and their disease which is very useful in emergency situations.

This image is for illustration purposes only and the children shown are models

It contains: A simple, easy to understand definition of their illness, in their language or English. Any current medication The contact details of their centre An emergency telephone number

In case of an emergency, a personal Medical Alert Card (MAC) containing this information may contribute to immediate appropriate care by any physician who has to manage the problem.  The MAC will be given to you by your doctor.

On-line Forum
A place where patients and parents can share their experiences and fears, etc. or simply communicate with other people in the same situation.

Telephone Helpline
In collaboration with the RAPSODY project there is a limited telephone helpline for anyone needing a personal contact.  It is available on weekdays from 9a.m. to 5p.m.  On holidays or weekends a message may be left and we shall get back to you as soon as possible.  This is not for medical emergencies.

Useful Links
These are links to other related sites which could be useful for you with regard to rare anaemias. They are organised into groups to make searching easier:

ENERCA Experts
Specialists are listed for each country, to offer general practitioners and other specialist doctors professional assistance and information throughout the European Community.

Rare Anaemias
This is an alphabetical list of rare anaemias which are provided with clear and simple descriptions. Furthermore each illness is linked to websites we consider useful for professionals. To access these links you have to log-in first.

Diagnosis Flowchart
Flowcharts were designed to aid doctors in diagnosing rare anaemias. This interactive tool is very useful and will guide you through the wide group of anaemias filling in some clinical data of the patient. The pathway to a disease provides information about methods preferably used by the ENERCA group. At last, each anaemia should dispose of a list of selected web sites which are considered helpful for further information.

Database/Registry
This registry will provide information of congenital dyserythropoietic anaemia, hereditary red cell enzymopathies and membrane defects in order to understand better the underlying pathomechanisms of these disorders. 

Guidelines/Recommendations
Here you will find standardized diagnostic criteria for splenectomy in congenital dyserythropoietic anaemias and  inherited red cell membrane defects.

Quality Assurance
ENERCA is working on the establishment of an external quality assurance in the field of investigating rare anaemias. For this, standardized methods for haemoglobin A2 studies, osmotic fragility test, blood smears and whole blood cell count will be set up in the future.

MAC (Medical alert card)
MAC is a leaflet which doctors can fill out and print for their patients who should always carry it with them. It briefly describes their illness, providing information about the patient’s clinical history and their current treatment. In case of emergency contact details of the centre where the patient is cared for should be specified as well. Thanks to this card communication between patient and doctor is made easy and precious time saved.

ENERCA-News

Contains scientific papers on specific rare anaemias for health-care professionals.
 

On-line Forum
This is where doctors can share their doubts, experiences, cases of interest, etc. with other of the best European specialists.  In time, this will greatly improve the service for their patients.
They will also be able to share research results to help improve understanding of molecular and genetic mechanisms of congenital rare anaemias. Once registered just go to the on-line forum and present your case.