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Revista Cubana de Hematología, Inmunología y Hemoterapia

versão On-line ISSN 1561-2996

Resumo

USTARIZ GARCIA, Catalino R; GARCIA GARCIA, María de los A  e  CHANG MONTEAGUDO, Arturo. Non frequent HLA haplotype in a family-based histocompatibility study for hematopoietic stem cell transplantation. Rev Cubana Hematol Inmunol Hemoter [online]. 2017, vol.33, n.4, pp. 92-96. ISSN 1561-2996.

When a hematopoietic stem cell transplantation is indicated, the HLA class I and class II antigens are typed in the recipient and its possible donors. In the Histocompatibility department of the Institute of Hematology and Immunology of Havana, a family-based histocompatibility study was performed to a patient diagnosed with Ph+ acute lymphoid leukemia. The patient and the father presented the haplotype HLA-A*03:01 B*39:10 C*12:03 DRB1*15:03 DQB1*06:02, which was also identified in the paternal grandfather by low resolution techniques. In turn, a haplotype, composed of the same HLA-A, B, C, DRB1 and DQB1 alleles, was typed in the mother and the sibling and it was detected in low resolution in the maternal grandfather. Surprisingly, the patient was HLA identical to the mother, when they would be expected to share only half of the HLA genes. The fact that the haplotype under study appeared in both parents of the patient, who came from families without known ties of kinship in at least two past generations, can be considered an unlikely event. Immunogenetic investigations based on HLA typing, not only contribute to the selection of the best recipient donor pair, but also allow characterizing the nation's genetic heritage.

Palavras-chave : bone marrow transplantation; hematopoietic stem cell transplantation; HLA; histocompatibility testing.

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