DIAMOND BLACKFAN ANEMIA: A TERTIARY CARE CENTRE EXPERIENCE
نویسندگان
چکیده
منابع مشابه
Diamond Blackfan Anemia: a Tertiary Care Center Experience
Diamond Blackfan Anemia (DBA) is a rare hypoplastic anemia that presents in infancy with macrocytic anemia and reticulocytopenia. It is a ribosomopathy with autosomal dominant inheritance. In our series of 10 patients with DBA, congenital malformations were observed in 50% of the cases. Age at symptom onset ranged from 0-12 months. Age at diagnosis ranged from 4 months to 96 months. Male: femal...
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Diamond-Blackfan anemia (DBA) is a rare, congenital, hypoplastic anemia that usually presents in early infancy. Congenital anomalies, particularly of the head and upper limbs, are present in about a quarter of reported patients. The disease is characterized by a moderate-to-severe macrocytic anemia, occasional neutropenia or thrombocytosis, a normocellular bone marrow with erythroid hypoplasia,...
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Diamond Blackfan anemia (DBA) is an inherited bone marrow failure syndrome characterized by red cell aplasia and congenital anomalies. A predisposition to cancer has been suggested but not quantified by case reports. The DBA Registry of North America (DBAR) is the largest established DBA patient cohort, with prospective follow-up since 1991. This report presents the first quantitative assessmen...
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Johanson Blizzard syndrome (JBS) is a rare multi-system disorder characterized by congenital aplasia or hypoplasia of alae nasi, exocrine pancreatic insufficiency, hypothyroidism, deafness, growth retardation, varying degree of mental retardation, alopecia, wide open fontanels, anti-mongoloid slant, café-au-lait spots and absent of permanent teeth. We report a 3 months old male child having Joh...
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ژورنال
عنوان ژورنال: Mediterranean Journal of Hematology and Infectious Diseases
سال: 2013
ISSN: 2035-3006
DOI: 10.4084/mjhid.2013.039