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D Girelli

Publications and source records attributed to D Girelli.

75 records · Page 5Linked to original sources
PubMedDate not supplied

Red blood cell molecular abnormalities in non haematological diseases.

Literature regarding molecular abnormalities of red blood cells (RBCs) that do not affect cell morphology, function or life span, observed in several non haematological diseases, has been reviewed with the aim of pointing out the pathological conditions in which RBC studies may offer useful biological and/or clinical information. RBC abnormalities have been classified into membrane and cytoplasm alterations; lipid and protein alterations of the membrane have been considered separately. We conclude that RBCs may often provide a simple and reliable tool for investigations concerning the diagnosis and/or treatment of many diseases, even if in some cases the true biological and clinical value of the remarks has to be evaluated further.

Autoimmune Diseases↗
PubMedDate not supplied

Juvenile and adult hemochromatosis are distinct genetic disorders.

Juvenile Hemochromatosis (JH) is a rare genetic disorder that causes iron overload. JH clinical features are similar to those of hemochromatosis (HFE), but the clinical course is more severe and is characterized by an earlier onset and by a prevalence of cardiac symptoms and endocrine dysfunctions. Here we describe seven Italian patients belonging to five unrelated families with clinical features typical of JH. In four out of five families the parents were consanguineous. Analysis of HFE gene mutations in all the cases and nucleotide sequence of the gene in one case excluded this gene as responsible for JH. Segregation analysis of 6p markers closely associated with HFE in families with consanguineous parents clearly showed that JH is unlinked to 6p and thus genetically distinct from HFE.

Adolescent↗