Our motto
To any parents of children with DBA received complete information on all treatment options, all aspects of diagnosis DBA in their native language.
Welcome to webpage of info-DBA.eu
A few introductory words
- These pages are intended to help:
- For parents who are confronted with the fact that their child is born is confirmed or confirmed Diamond Blackfan anemia
- Parents who are older child with Diamond Blackfan anemia
- for health professionals, particularly for doctors (Hematology, oncologist, but also practical paediatricians)
- for the general public
Diamond Blackfan anemia (DBA) is a rare life-threatening and severe anemia is manifesting the disease. Disease is usually seen slower growth of the fetus, followed by the birth of a very weak and anemického newborns, milder forms of disease can occur at a later date (not later than 1 year of age).
Diamond Blackfan anemia caused by the failure retikulocytů formation in the bone marrow.
This is a very serious and rare diseases with the frequency 1případ to 100,000 births. Plays a role in the occurrence of race, latitude, sex, etc.
In earlier times, so children very soon after birth or several years of dying. The first records of the disease to come from r.1936 where doctors Dr.Diamond and DR.BLackfan described the first two cases.
Currently, patients in the registry DBA in the U.S. and Canada more than 350 known DBA patients. The Czech Republic is in the registry DBA registered 26 patients
This disease is very diverse and is responsible for it now clarified a few mutations, further mutations will be found a very early. The aetiology of the disease is still unclear, in most cases, a downturn in the translation-ribosomal proteins
In addition, many life-threatening anemia DBA patients also reported different physical anomílie. Of the patients from which data are available is 48% of them at least one physical abnormality, while 23% of patients have more than one anomaly. 41% percent of the face anomaly and 36% reported anomaly arm and hand - usually an inch. 33% of the genitourinary anomalies, and 27% of the cardiac anomalies. 21% of these patients has a short figure včetně11% of which are associated with the treatment of steroids.
This is a very serious and rare diseases with the frequency 1případ to 100,000 births. Plays a role in the occurrence of race, latitude, sex, etc.
In earlier times, so children very soon after birth or several years of dying. The first records of the disease to come from r.1936 where doctors Dr.Diamond and DR.BLackfan described the first two cases.
Currently, patients in the registry DBA in the U.S. and Canada more than 350 known DBA patients. The Czech Republic is in the registry DBA registered 26 patients
This disease is very diverse and is responsible for it now clarified a few mutations, further mutations will be found a very early. The aetiology of the disease is still unclear, in most cases, a downturn in the translation-ribosomal proteins
In addition, many life-threatening anemia DBA patients also reported different physical anomílie. Of the patients from which data are available is 48% of them at least one physical abnormality, while 23% of patients have more than one anomaly. 41% percent of the face anomaly and 36% reported anomaly arm and hand - usually an inch. 33% of the genitourinary anomalies, and 27% of the cardiac anomalies. 21% of these patients has a short figure včetně11% of which are associated with the treatment of steroids.
regular blood transfusions (irradiated and deleukotizované erymasy): a big problem with the accumulation and toxic effects of iron in the body
kortikody: administration of corticoids (in the Czech Republic does Prednisone) treatment takes only in parts of patients. Very serious side effects: osteoporosis, and osteomalcie, growth retardation, mental problems, the risk of diabetes, the risk of high blood pressure
bone marrow transplantation: a very intensive intervention in the case of transplant patient with DBA is a recommended selection of a special department that this has a successful and long-term experience (other than transplant protocol in the case such as transplants leukemika)
administration leucinu very encouraging results in the workplace Olomouc UN children's clinics, Doc.Dagmar Pospíšilová (maintain a register of patients from all over the Czech Republic) - each parent to recommend treatment for Doc.D.Pospíšilové. Unfortunately, does not all patients.
Aktuálně:
New webpage launched
We have launched a new information site on the disease DBA.