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1.
Mol Genet Metab Rep ; 29: 100820, 2021 Dec.
Article in English | MEDLINE | ID: mdl-34820281

ABSTRACT

Gaucher disease is reckoned for extreme phenotypic diversity that does not show consistent genotype/phenotype correlations. In Argentina, a national collaborative group, Grupo Argentino de Diagnóstico y Tratamiento de la Enfermedad de Gaucher, GADTEG, have delineated uniformly severe type 1 Gaucher disease manifestations presenting in childhood with large burden of irreversible skeletal disease. Here using Long-Read Single Molecule Real-Time (SMRT) Sequencing of GBA1 locus, we show that RecNciI allele is highly prevalent and associates with severe skeletal manifestations in childhood.

2.
Hematology ; 16(5): 265-73, 2011 Sep.
Article in English | MEDLINE | ID: mdl-21902889

ABSTRACT

The retrospective epidemiological study of Latin Americans with transfusional hemosiderosis is the first regional patient registry to gather data regarding the burden of transfusional hemosiderosis and patterns of care in these patients. Retrospective and cross-sectional data were collected on patients ≥2 years with selected chronic anemias and minimum 20 transfusions. In the 960 patients analyzed, sickle-cell disease (48·3%) and thalassemias (24·0%) were the most frequent underlying diagnoses. The registry enrolled 355 pediatric patients (187 with sickle-cell disease/94 with thalassemia). Serum ferritin was the most frequent method used to detect iron overload. Complications from transfusional hemosiderosis were reported in ~80% of patients; hepatic (65·3%), endocrine (27·5%), and cardiac (18·2%) being the most frequent. These data indicate that hemoglobinopathies and complications due to transfusional hemosiderosis are a significant clinical problem in the Latin American population with iron overload. Chelation therapy is used insufficiently and has a high rate of discontinuation.


Subject(s)
Hemosiderosis/epidemiology , Hemosiderosis/etiology , Transfusion Reaction , Adolescent , Adult , Aged , Aged, 80 and over , Chelation Therapy , Child , Child, Preschool , Endocrine System Diseases/complications , Female , Ferritins/blood , Heart Diseases/complications , Hemoglobins/metabolism , Hemosiderosis/complications , Hemosiderosis/drug therapy , Humans , Iron Chelating Agents/therapeutic use , Latin America/epidemiology , Latin America/ethnology , Liver Diseases/complications , Male , Middle Aged , Registries , Retrospective Studies , Skin Pigmentation , Young Adult
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