title: Histological features of bone marrow in paediatric patients during the asymptomatic phase of early-stage Black African sickle cell anaemia.
abstract: Bone marrow histological features of sickle cell anaemia (SCA) patients during early stages and in the asymptomatic phase of the disease appear an interesting area of study, representing early-stage consequences of SCA with a close relation to its pathophysiology. Unfortunately, this field of research has never been specifically addressed before. Bone marrow biopsies from 26 consecutive Black African SCA patients (M:F=1.6:1; age 2-17 years), free of clinical signs of chronic bone marrow damage, with no recent history of symptomatic vaso-occlusive episodes, and waiting for haematopoietic stem cell transplantation (HSCT), underwent morphological, immunohistochemical and electron microscopy evaluation. Additional comparison with three bone marrow specimens from post-HSCT SCA patients and 10 bone marrow specimens from AS healthy carriers was performed. Bone marrow of SCA patients was normocellular or slighly hypercellular in all cases. Erythroid hyperplasia was a common feature. Myeloid lineage was slightly decreased with normal to slightly diminished neutrophilic granulocytes; CD68 positive monocytic-macrophagic cells appeared slightly increased, with a predominant CD163 positive M2/M(Hb) phenotype. A positive correlation was found between haemoglobin values and number of bone marrow erythroid cells (R2=0.15, p=0.05). Intravascular and interstitial clusters of erythroid sickle cells were found in bone marrow of pre-HSCT homozygous SS SCA patients, as well as heterozygous AS healthy carriers, and the single post-HSCT patient matched to an AS health carrier donor.
authors.affiliation: Anatomic Pathology, Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome, Italy. Electronic address: alessandro.mauriello@uniroma2.it.
authors.forename: Alessandro
authors.initials: A
authors.lastname: Mauriello
authors.affiliation: Anatomic Pathology, Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome, Italy.
authors.forename: Erica
authors.initials: E
authors.lastname: Giacobbi
authors.affiliation: Anatomic Pathology, Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome, Italy.
authors.forename: Andrea
authors.initials: A
authors.lastname: Saggini
authors.affiliation: International Center for Transplantation in Thalassemia and Sickle Cell Anemia, Mediterranean Institute of Hematology (IME), Policlinic Tor Vergata, Rome, Italy.
authors.forename: Antonella
authors.initials: A
authors.lastname: Isgrò
authors.affiliation: Anatomic Pathology, Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome, Italy.
authors.forename: Simone
authors.initials: S
authors.lastname: Facchetti
authors.affiliation: Anatomic Pathology, Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome, Italy.
authors.forename: Lucia
authors.initials: L
authors.lastname: Anemona
mesh_terms: D000293:Adolescent; D000755:Anemia, Sickle Cell / Q000175:diagnosis / Q000473:pathology*; D001853:Bone Marrow / Q000473:pathology*; D001854:Bone Marrow Cells / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D005260:Female; D018380:Hematopoietic Stem Cell Transplantation / Q000379:methods; D006801:Humans; D008297:Male; D009190:Myelodysplastic Syndromes / Q000175:diagnosis / Q000473:pathology; D013154:Spleen / Q000473:pathology*
keywords: Sickle cell anaemia; electron microscopy; pathology