Abstract
Diamond-blakfan anemia (DBA) is a rare condition in pediatric pathology, with more than 500 cases described in literature. It is a congenital eritroblastopenia, with AD/AR/ X-linkage inheritance, 90% were diagnosed by one year of age. Physical appearances were abnormal only in 29%. The current recommendations are corticosteroids, with suportive treatment and bone marrow transplantation. In general, DBA remains a single cytopenia. Long term prognosis remains uncertain, DBA is a preleukemia condition. We present two cases that we took care of in our clinics.
MeSH terms
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Adolescent
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Anemia, Diamond-Blackfan / diagnosis*
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Anemia, Diamond-Blackfan / drug therapy
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Anemia, Diamond-Blackfan / genetics
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Benzoates / therapeutic use
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Blood Transfusion
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Cardiomyopathy, Dilated / diagnosis
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Deferasirox
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Deferoxamine / therapeutic use
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Drug Therapy, Combination
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Female
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Glucocorticoids / therapeutic use
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Hepatomegaly / diagnosis
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Humans
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Infant
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Iron Chelating Agents / therapeutic use
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Male
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Prognosis
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Siderophores / therapeutic use
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Splenomegaly / diagnosis
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Testosterone Congeners / therapeutic use
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Treatment Outcome
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Triazoles / therapeutic use
Substances
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Benzoates
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Glucocorticoids
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Iron Chelating Agents
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Siderophores
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Testosterone Congeners
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Triazoles
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Deferoxamine
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Deferasirox