Association of Multiple Haematological Disorders (Acute Myeloblastic Leukaemia, Paraproteinaemia, and Thalassaemia) in a 46, XX/46, XXqi Female

Abstract

In a thalassaemic female carrying a 46, XX/46, XXqi mosaic, the occurrence of acute myeloblastic leukaemia was observed. Karyotype analysis of several bone marrow aspirates disclosed, besides both normal metaphases and metaphases containing the isochromosome, a line characterised by a supernumerary chromosome in the C group (C trisomy). A clonal proliferation of the leukaemic line from normal precursors was suggested since no cells carrying the isochromosome and the C trisomy together were found. In the course of the disease a remarkable plasma-cellular proliferation brought about a hyperglobulinaemia of monoclonal aspect (IgG, λ-type). Since the chromosomal analysis demonstrated that the presence of a C trisomy might also be present in the plasma cells, a close proliferative connection has been put forward for the stem cells differentiating along both the granulocytic and the plasmacytic line.

Anemia Investigation Reveals a Primary Sea-Blue Histiocyte Syndrome

“…Several reports indicate that SBHS is associated with metabolic and haematological disorders. Most cases of non-idiopathic SBHS are secondary to lipid metabolic and ceroid storage diseases [11], such as Niemann-Pick Disease [12], lecithin cholesterol acyltransferase deficiency [13,14], Fabry Disease, Gaucher Disease [15] and in association with hyperlipidemia [12], hypercholesterolemia [16], sphingomyelinase deficiency [17], hepatic porphyria [18], hyperlipoproteinemia [19][20][21][22][23], hyperlipoproteinemia type I [20], type III [19], type IV [22], type V [21] and type IIb [24]. In fact, Niemann-Pick Disease type F subgroup, which is seen in adults, has also been termed "sea-blue histiocytosis" [25].…”