ANEMIE APLASIQUE PDF

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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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.

Orphanet: Anemie aplasique pure congenitale

The anemia is discovered early in life, usually within the first 2 years; diagnosis after 4 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.

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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 case and according to the age of the patient. Steroids should not be administered during the first apkasique of life. Short stature, occurring both as part of the syndrome and due to treatment-related complications steroids, hemochromatosis aplaasique, is 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 life expectancy. Disease severity depends on the quality and response to treatment. For patients undergoing regular transfusions, quality of life is clearly altered.

Other search option s Alphabetical list. Summary aplaasique related texts. Check this box if you wish to receive a copy of your message. Disease definition Blackfan-Diamond anemia DBA is a congenital aregenerative and often macrocytic anemia with erythroblastopenia.

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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 anmeie should include transient erythroblastopenia see this termchronic 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. Prognosis The prognosis is generally good.

Idiopathic Aplastic Anemia

Detailed information Article for general public Svenska Qnemie 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.

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.