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Clinical and Developmental Immunology
Volume 2013, Article ID 937846, 9 pages
Clinical Study

The Association of CD81 Polymorphisms with Alloimmunization in Sickle Cell Disease

1Sheikh Zayed Institute for Pediatric Surgical Innovation, Children’s National Medical Center, 111 Michigan Avenue NW, Washington, DC 20010-2970, USA
2Department of Pediatrics, George Washington University School of Medicine and Health Sciences, Washington, DC 20052, USA
3Immunology and Histocompatibility Department and INSERM, UMRS 940, Saint Louis Hospital, 75010 Paris, France
4Divisions of Hematology and Laboratory Medicine, Children’s National Medical Center, Washington, DC 20010, USA
5Etablissement Français du Sang (EFS), Tenon Hospital, 75020 Paris, France
6Centre de la Drépanocytose, Department of Internal Medicine, Tenon Hospital, 75020 Paris, France
7INSERM, U763, Robert Debré Hospital, 75019 Paris, France
8Hematology Department, Tenon Hospital, 75020 Paris, France

Received 27 February 2013; Revised 17 April 2013; Accepted 18 April 2013

Academic Editor: Daniel Rukavina

Copyright © 2013 Zohreh Tatari-Calderone et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


The goal of the present work was to identify the candidate genetic markers predictive of alloimmunization in sickle cell disease (SCD). Red blood cell (RBC) transfusion is indicated for acute treatment, prevention, and abrogation of some complications of SCD. A well-known consequence of multiple RBC transfusions is alloimmunization. Given that a subset of SCD patients develop multiple RBC allo-/autoantibodies, while others do not in a similar multiple transfusional setting, we investigated a possible genetic basis for alloimmunization. Biomarker(s) which predicts (predict) susceptibility to alloimmunization could identify patients at risk before the onset of a transfusion program and thus may have important implications for clinical management. In addition, such markers could shed light on the mechanism(s) underlying alloimmunization. We genotyped 27 single nucleotide polymorphisms (SNPs) in the CD81, CHRNA10, and ARHG genes in two groups of SCD patients. One group (35) of patients developed alloantibodies, and another (40) had no alloantibodies despite having received multiple transfusions. Two SNPs in the CD81 gene, that encodes molecule involved in the signal modulation of B lymphocytes, show a strong association with alloimmunization. If confirmed in prospective studies with larger cohorts, the two SNPs identified in this retrospective study could serve as predictive biomarkers for alloimmunization.