Diamond-Blackfan anemia
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Diamond-Blackfan anaemia,also known as pure red cell aplasia, is a rare congenital anaemia that typically presents in the first few years of life as a normocytic or macrocytic anaemia usually only affecting cells of the erythroid lineage 2. However, neutropenia and thrombocytopenia may occasionally be noted 1. The disorder is also associated with an increased risk of acute myeloid leukemia and osteogenic sarcoma 3 .
Pathology
Diamond-Blackfan anemia displays an autosomal dominant inheritance with incomplete penetrance 4 . Deletion of ribosomal proteins specifically RPS19 is the cause of Diamond-Blackfan in approximately 25% of patients 2.
Congenital malformations are often observed 1:
- craniofacial: microcephaly, micrognathia, hypertelorism, microtia, cleft lip and palate
- eyes: congenital cataract, glaucoma, stabismus, amblyopia
- neck: small webbed neck
- cardiac: atrial septal defect, ventricular septal defect
- genitourinary: horseshoe kidney, hypospadias, absent kidney
- upper limb: absent thumb, hypoplastic thumbs, triphalangeal thumb
As patients age, they may develop findings from iron overload due to the chronic need for transfusions.
-</ul>- +</ul><p>As patients age, they may develop findings from iron overload due to the chronic need for transfusions. </p>
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