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

[1]

Aygun B., Padmanabhan S., Paley C., Chandrasekaran V., Clinical significance of RBC alloantibodies and autoantibodies in sickle cell patients who received transfusions, Transfusion, 42, 1, pp. 37-43, (2002)

[2]

Smith-Whitley K., Alloimmunization in patients with sickle cell disease, Pediatric Transfusion Therapy, pp. 249-282, (2002)

[3]

Perseghin P., Balduzzi A., Galimberti S., Dassi M., Baldini V., Valsecchi M.G., Pioltelli P., Bonanomi S., Faccini P., Rovelli A., Pogliani E.M., Uderzo C., Red blood cell support and alloimmunization rate against erythrocyte antigens in patients undergoing hematopoietic stem cell transplantation, Bone Marrow Transplantation, 32, 2, pp. 231-236, (2003)

[4]

Noizat-Pirenne F., Lee K., Pennec P.Y., Et al., Rare RHCE phenotypes in black individuals of Afro-Caribbean origin: Identification and transfusion safety, Blood, 100, 12, pp. 4223-4231, (2002)

[5]

Pham B.N., Peyrard T., Tourret S., Et al., Anti-Hr and anti-hr revisited, Transfusion, 49, 11, pp. 2400-2405, (2009)

[6]

Bernaudin F., Socie G., Kuentz M., Et al., Long-term results of related myeloablative stem-cell transplantation to cure sickle cell disease, Blood, 110, 7, pp. 2749-2756, (2007)

[7]

Shenoy S., Has stem cell transplantation come of age in the treatment of sickle cell disease?, Bone Marrow Transplant, 40, 9, pp. 813-821, (2007)

[8]

Denomme G.A., Flegel W.A., Applying molecular immunohematology discoveries to standards of practice in blood banks: Now is the time, Transfusion, 48, 11, pp. 2461-2475, (2008)

[9]

Shenoy S., Grossman W.J., DiPersio J., Et al., A novel reduced-intensity stem cell transplant regimen for nonmalignant disorders, Bone Marrow Transplant, 35, 4, pp. 345-352, (2005)

[10]

Walters M.C., Patience M., Leisenring W., Et al., Stable mixed hematopoietic chimerism after bone marrow transplantation for sickle cell anemia, Biol Blood Marrow Transplant, 7, 12, pp. 665-673, (2001)

← 1 2 →