RH genotyping in a sickle cell disease patient contributing to hematopoietic stem cell transplantation donor selection and management

被引：35

作者：

Fasano, Ross M.

Monaco, Alessandro

Meier, Emily Riehm

Pary, Philippe

Lee-Stroka, A. Hallie

Otridge, John

Klein, Harvey G.

Marincola, Francesco M.

Kamani, Naynesh R.

Luban, Naomi L. C.

Stroncek, David

Flegel, Willy A. ^{[1
]}

机构：

[1] Childrens Natl Med Ctr, Washington, DC USA

[2] Natl Inst Hlth, Clin Cntr, Dept Transfus Med, Lab Serv Sect, Bethesda, MD 20892 USA

[3] Progenika, Cambridge, MA USA

来源：

BLOOD | 2010年 / 116卷 / 15期

关键词：

D O I：

10.1182/blood-2010-04-279372

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

African individuals harbor molecular RH variants, which permit alloantibody formation to high-prevalence Rh antigens after transfusions. Genotyping identifies such RH variants, which are often missed by serologic blood group typing. Comprehensive molecular blood group analysis using 3 genotyping platforms, nucleotide sequencing, and serologic evaluation was performed on a 7-year-old African male with sickle cell disease who developed an "e-like" antibody shortly after initiating monthly red blood cell (RBC) transfusions for silent stroke. Genotyping of the RH variant predicted a severe shortage of compatible RBCs for long-term transfusion support, which contributed to the decision for hematopoetic stem cell transplantation. RH genotyping confirmed the RH variant in the human leukocyte antigen-matched sibling donor. The patient's (C)ce(s) type 1 haplotype occurs in up to 11% of African American sickle cell disease patients; however, haplotypematched RBCs were serologically incompatible. This case documents that blood unit selection should be based on genotype rather than one matching haplotype. (Blood. 2010;116(15):2836-2838)

引用

页码：2836 / 2838

页数：3

共 15 条

[11]

Honig M., Flegel W.A., Schwarz K., Et al., Successful hematopoietic stem-cell transplantation in a patient with chronic granulomatous disease and McLeod phenotype sensitized to Kx and K antigens, Bone Marrow Transplant, 45, 1, pp. 209-211, (2010)

[12]

Klapper E., Zhang Y., Figueroa P., Et al., Toward extended phenotype matching: A new operational paradigm for the transfusion service, Transfusion, 50, 3, pp. 536-546, (2010)

[13]

Moulds J., Lowery C., Frequency and clinical relevance of the r's allele in blacks, Transfusion, 47, S3, (2007)

[14]

Tournamille C., Meunier-Costes N., Costes B., Et al., Partial C antigen in sickle cell disease patients: Clinical relevance and prevention of alloimmunization, Transfusion, 50, 1, pp. 13-19, (2010)

[15]

Vege S., Westhoff C.M., Molecular characterization of GYPB and RH in donors in the American Rare Donor Program, Immunohematology, 22, 3, pp. 143-147, (2006)

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