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Congenital Bone Marrow Failure Syndromes     

Congenital dyserythropoietic anaemia
(abgekürzt: CDA)

Some information for affected people and their families (October 2010)

Congenital dyserythropoietic anaemia is a rare inborn illness, which was first classified as an independent disease in 1968. At the present time there are about 600 cases known in Europe. As for the rarity of this illness it is understandable that general practitioners, paediatricians and internists who haven’t specialized in diseases concerning the blood system, are not able to diagnose this ailment unless they have informed themselves in the course of treating CDA patients beforehand. Therefore we think it’s appropriate to provide general information for the patients and an extended version for their doctors.

Congenital dyserythropoietic anaemia describes different illnesses which show similar disturbances and problems in the affected person. The severity of these disorders varies widely in its characteristics: Whereas a few patients require blood transfusions immediately after birth or during childhood, other patients, who haven’t been affected too vigorously, show only a slight paleness, a mild jaundice, which appeared in childhood and is only noticeable by exact inspection of the eyes, and a decrease in physical working capacity.

 

CDA is classified into three types. Type II appears more often then type I. Type III is hardly known except for a large family in Northern Sweden. It is not always possible to do an exact classification in some families. Because of this the following illustration is restricted to the most frequent types, I and II. Congenital dyserythropoietic anaemia type II = CDA II is more common in Italy than in other European countries. However in the German speaking regions it doesn’t show a higher occurrence in respect of people from Greece, Italy, Spain and Turkey. It is also found just as often in German families whose origin can be traced back many generations.

In the following you will be able to read about the explanation of the word, “congenital dyserythropoietic anaemia”. The word “congenital”: meaning present at birth; the exact expression would have been “hereditary“, however this condition wasn’t know when first discovered. “Dyserythropoietic” signifying, that the red blood cells in the bone marrow are not only incorrectly produced but are even partly degraded. Hence there are not enough red blood cells provided in the blood whereas the blood pigment (haemoglobin) is overproduced and released. After having been metabolised to the yellow bile pigment (bilirubin) a slight yellow colour in the skin of many patients is noticeable. The word ”anaemia” describes the fact of having a reduced value of red blood cells and therefore a diminished content of haemoglobin.

The appearance in affected families is usually restricted to siblings, not to parents or children of affected people. This disease will come upon somebody by random and will possibly affect one person or several in a row of siblings. We are often asked, whether people with CDA are able to have healthy children. Initially it was assumed that the disposition may be inherited to patient’s children however they and their descendants are totally healthy. Although affected women are able to get pregnant and give birth without complications, it is necessary for them to be given preterm advice. The same is true for parents who have already got an affected child.

Most patients with CDA have a normal life expectancy, even though they are of high risk suffering from consequences directly associated with their disease. Therefore it is important to work against these in a competent way. The following dangers should be mentioned:

  1. Very common formation of biliary stones, in some cases already existing in children and youths.

  1. Sudden reinforcement of the anaemia through exacerbating viral infections (e.g. parvovirus B19). This is a unique but possibly dangerous incident.

  1. Increased accumulation of iron in the body, which, depending on the severeness of iron overload in the body, can cause liver, heart and endocrine gland damages.

  1. Formation of ulcers on the lower leg of elderly people.

  1. Haematopoiesis outside the bone marrow, which may cause misdiagnoses when looking at an x-ray of the lungs.

Confirmation of the medical diagnosis and establishment of the CDA-type serve as the basis for therapy, They are assessed through specific inquiries carried out in clinics which are familiar with this disease and work in close cooperation with specialists for paediatric and internistic haematology. Depending on this exact inquiry a decision can be taken if one must or can give specific therapy advice to the patients. In certain cases it could be a possibility to do remove the spleen, whereas in other cases a therapy by medical drugs is effective advisable in order to either improve the anaemia or decrease the iron overload in the body. We hope further disease researches will give new forms of treatment in the future.

CONTACT

If you require further advice you or your doctor can contact us by telephone or, preferably, in writing. If you are not able to get through to us on the phone please leave a message on the answering phone clearly giving your name and telephone number. We will respond as soon as possible. Obviously you should be interested to know that doctors who have been treating you over a long period of time, especially your general practitioner, will be included in the consulting processes. Further information is available at your disposal if necessary. We recommend that you pass on this handout to your doctors treating either you or your child.

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    Children and young people:
    Prof. Dr. med. Elisabeth Kohne
    Universitätsklinik für Kinder- und Jugendmedizin
    Prittwitzstr. 43
    D - 89075 Ulm
    Telefon: 0731 5005-7149
    Telefax: 0731 5005-7103
    E-mail: elisabeth.kohne@uniklinik-ulm.de

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