Congenital Dyserythropoietic Anaemia (CDA)

This website is aimed at patients who have or are interested in congenital dyserythropoietic anaemia (CDA). In order to understand some of the content, it is helpful to have an understanding of some key terms:

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Inherited:

This means a condition that is passed on from parents to children. It is coded for by genes. Babies are born with it, but may not appear ill until later in life.

Gene:

A piece of DNA (the building blocks of our genetic material) that specifically codes for a single protein.

Chromosome:

String of DNA on which genes are organised next to each other. Everyone has 2 copies of each chromosome- one from their father and one from their mother. Therefore there are 2 copies of every gene (except sex chromosomes).

Dominant:

A characteristic in a gene that gets expressed regardless of what is in the other gene. For example someone carrying one gene coding for brown eyes and one gene coding for blue eyes will have brown eyes because brown is dominant.

Recessive:

A characteristic in a gene that gets expressed only if it is also present in the other gene as well. For example, for someone to have blue eyes they must carry two copies of the blue eye genes.

Mutation:

An error in the DNA code. This may be harmless or harmful. If harmful, it may be the cause of an inherited condition.

Sequencing:

Working out the exact code of a single or set of gene(s).

Carrier:

This is someone who is not themselves affected by the condition but who carries one copy of the mutation in their DNA which can cause the condition. This means that they can pass on this mutation to their children.

Anaemia:

This means lack of or not enough blood. There are many causes of anaemia. Some happen later in life (eg. Iron deficiency anaemia, where the patient does not have enough iron to make adequate amounts of blood) and some are inherited.