The blood that circulates throughout the body performs a number of critical functions. It delivers oxygen, removes carbon dioxide, and carries life-sustaining . Aplastic anemia is a syndrome of bone marrow failure characterized by peripheral pancytopenia and marrow hypoplasia (see the image below). Anemia is a condition where the number of healthy red blood cells (RBCs) in the blood is lower than normal. RBCs transport oxygen throughout the body, so a.
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For all other anwmie, please send your remarks via contact us. Only comments written in English can be processed. Blackfan-Diamond anemia DBA is a congenital aregenerative and often macrocytic anemia with erythroblastopenia. Both sexes are equally affected and no ethnic predisposition has been identified.
The anemia is discovered early in life, usually within the first 2 years; diagnosis after alasique years of age is very unlikely. Pallor and dyspnea, especially during feeding or while sucking, are the principal warning signs. Pallor is isolated, without organomegaly, signs suggestive of hemolysis or involvement of other hematopoietic cell lines. Over half of all DBA patients present with short stature and congenital anomalies, the most frequent being craniofacial Pierre-Robin syndrome and cleft palatethumb and urogenital anomalies.
Pregnancies in DBA-affected women are now identified as high-risk, for both mother and child. DBA patients may also be at a higher risk of leukemia and cancer. Detection of a disease-causing mutation is of diagnostic value.
The differential diagnosis should include transient erythroblastopenia see this termchronic parvovirus B19 infection, and other congenital anemias. Close ultrasound follow-up during the pregnancy is recommended in all cases.
The two main therapeutic approaches are regular transfusions and long-term corticosteroid therapy.
Treatment must be adapted to each wnemie and according to the age of the patient. Steroids should not be administered during the first year of life.
Short stature, occurring both as part of the syndrome and due to treatment-related complications steroids, hemochromatosisis a major issue for these patients.
Allogenic bone-marrow transplantation must be discussed in corticoresistant patients when an unaffected and HLA-identical sib is available. The prognosis is generally good. However, complications of treatment and a higher incidence of cancer may reduce aplasiique expectancy.
Orphanet: Anemie aplasique pure congenitale
Disease severity depends on the quality and response to treatment. For patients undergoing regular transfusions, quality aplasiqe life is clearly altered. Other search option s Alphabetical list. Summary and related texts. Check this box if you wish to receive a copy of your message.
Anémie aplasique et P.T.H. – EM|consulte
Disease definition Blackfan-Diamond anemia DBA is a congenital aregenerative and often macrocytic anemia with erythroblastopenia. Clinical description The anemia is discovered early in life, usually within the first 2 years; diagnosis after 4 years of age is very unlikely.
Differential diagnosis The differential diagnosis should include transient erythroblastopenia see this termalpasique parvovirus B19 infection, and other congenital anemias. Genetic counseling DBA is inherited as an autosomal dominant trait with variable penetrance. Management and treatment The two main therapeutic approaches are regular transfusions and long-term corticosteroid therapy.
Idiopathic Aplastic Anemia
Prognosis The prognosis is generally good. Detailed information Article for general public Svenska Additional information Further information on this disease Classification s 7 Gene s 19 Disability Clinical signs and symptoms Publications in PubMed Other website s 7.
Health care resources for this disease Expert centres Diagnostic tests 27 Patient organisations 33 Orphan drug s 0. Specialised Social Services Eurordis directory.
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