Danazol: An Effective and Underutilised Treatment Option in Diamond-Blackfan Anaemia
نویسندگان
چکیده
منابع مشابه
Diamond Blackfan anaemia in the UK: clinical and genetic heterogeneity.
A detailed family study was undertaken of patients notified to the UK Diamond Blackfan Anaemia (DBA) Registry. RPS19 mutations were detected in 16 of 104 families, including two patients with deletions detected by intragenic loss of heterozygosity of tightly linked polymorphisms. In two further cases, polymorphisms were used to determine the parental allele of origin of RPS19 point mutations. A...
متن کاملAutosomal dominant inheritance and amino aciduria in Blackfan-Diamond anaemia.
Since congenital hypoplastic anaemia was first described by Diamond and Blackfan in 1938, over a hundred cases have been reported in the literature. The syndrome is characterized by a profound persistent anaemia, onset early in infancy, a severe hypoplasia of the erythroid precursors of the bone marrow, and absence of other haematological abnormalities. Until steroids become available for treat...
متن کاملDanazol: An Effective Option in Acquired Amegakaryocytic Thrombocytopaenic Purpura
Acquired amegakaryocytic thrombocytopaenic purpura (AATP) is a rare haematological condition characterised by isolated thrombocytopaenia with normal other cell lines. It is often initially misdiagnosed as immune thrombocytopaenic purpura but has characteristic bone marrow findings of reduced megakaryocyte numbers. The optimal treatment of AATP is not clearly defined but revolves around immunosu...
متن کاملPathogenesis of the erythroid failure in Diamond Blackfan anaemia.
Diamond Blackfan anaemia (DBA) is a severe congenital failure of erythropoiesis. Despite mutations in one of several ribosome protein genes, including RPS19, the cause of the erythroid specificity is still a mystery. We hypothesized that, because the chromatin of late erythroid cells becomes condensed and transcriptionally inactive prior to enucleation, the rapidly proliferating immature cells ...
متن کاملMid-life extra-haematopoetic manifestations of Diamond–Blackfan anaemia
SUMMARY Diamond-Blackfan anaemia (DBA) is a rare cause of bone marrow failure. The incidence of malignancy and endocrine complications are increased in DBA, relative to other inherited bone marrow failure syndromes. We describe an adult woman with DBA who developed osteoporosis and avascular necrosis (AVN) of both distal femora. Such endocrine complications are not uncommon in DBA, but under-ap...
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ژورنال
عنوان ژورنال: Case Reports in Hematology
سال: 2019
ISSN: 2090-6560,2090-6579
DOI: 10.1155/2019/4684156