The main purpose of this Manual is to provide useful guidelines for the selection of pathology tests and to facilitate interpretation of results.
Contains a comprehensive listing of all genes from the Human Gene Nomenclature Committee (HGNC) database alongside laboratories and tests available in the country.
A manual for the process of macroscopic dissection in Anatomical Pathology laboratories.
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Full blood count, Blood film (dimorphic blood film with hypochromic red cells), White cell count differential and Platelet count.
Ferritin and Transferrin saturation.
Bone marrow biopsy: aspiration and trephine biopsy (with special stain for iron) to demonstrate 'ring' sideroblasts, and define any underlying haematological disorder.
Congenital sideroblastic anaemia
X-linked due to germline mutations in the erythroid-specific ALA synthase (ALAS2)
Autosomal recessive due to SLC25A38 mutation
May be non-syndromic or associated with neuromuscular and metabolic phenotypes.
Full blood count, Blood film (shows dimorphic blood film with many hypochromic and microcytic red cells)
Bone marrow aspirate, trephine and iron stain demonstrating ring sideroblasts.
Acquired clonal sideroblastic anaemia
Refractory anaemia with ring sideroblasts
Full blood count, Blood film
Bone marrow aspirate: often erythroid hyperplasia, 15% or more ring sideroblasts in the bone marrow and less than 5% blasts.
Refractory anaemia with ring sideroblasts and thrombocytosis
Full blood count: thrombocytosis
Bone marrow aspirate: 15% or more ring sideroblasts in the bone marrow and less than 5% blasts.
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The RCPA is the leading organisation representing Pathologists and Senior Scientists in Australasia.
Its mission is to train and support pathologists and senior scientists and to improve the use of pathology testing to achieve better healthcare.
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