Analysis of pathological findings in a humanized murine model of sickle cell anemia

Marcello Trucas

;Michela Simbula;Maria Serafina Ristaldi;Andrea Perra

2019-01-01

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Abstract

Sickle cell anemia (SCD) is a hemoglobinopathy caused by a single nucleotide mutation in the beta globin gene (HbS). Homozygous subjects (HbSS) develop a chronic ischemic disease that affect several organs, including kidney, liver, spleen. The use of animal models has been crucial to define the molecular and biochemical features of this disease. The disease model developed by T.M. Townes (1), in which mice expresses human HbS, is one of the most utilized. In the homozygous mice the histopathological and hematological lesions are similar to that observed in the more severe human forms of SCD. However, an exhaustive analysis of the histopathology of heterozygous animals (HbS) has not been published to date (3-6). The present work proposes the results of a thorough comparative analysis of pathological findings in Townes’ HbSS and HbS mice SCD model. Our aim is to verify the utility of this model to study the molecular and biochemical alterations presents in subjects with a SCD trait