The novel HLA-A*30:172 allele identified in a donor from the Colombian bone marrow donor registry.

HLA-A*30:172 differs from HLA-A*30:01:01:01 by a single nucleotide in codon 153 in exon 3.

Characterization of the novel HLA-DRB1*04:315 allele by next-generation sequencing.

HLA-DRB1*04:315 differs from HLA-DRB1*04:07:01:02 by a single nucleotide substitution in codon 147 of exon 3.

Identification of a novel HLA-DRB1 null allele, HLA-DRB1*13:298N, in two siblings from Colombia.

Identification of a novel null allele, HLA-DRB1*13:298N, resulting from a deletion of two nucleotides.

Description of HLA-DRB1*14:02:09, a novel HLA allele identified in a Colombian donor.

HLA-DRB1*14:02:09 differs from HLA-DRB1*14:02:01:02 by a single nucleotide substitution in codon 169 of exon 3.

Identification of five novel HLA-B alleles in donors from the Colombian Bone Marrow Donor Registry.

Identification of five novel HLA-B alleles in five samples from Colombian bone marrow donors.

Distributions of the HLA-A, HLA-B, HLA-C, HLA-DRB1, and HLA-DQB1 alleles and haplotype frequencies of 1763 stem cell donors in the Colombian Bone Marrow Registry typed by next-generation sequencing.

The HLA compatibility continues to be the main limitation when finding compatible donors, especially if an identical match is not found within the patient's family group. The creation of bone marrow registries allowed a therapeutic option by identifying 10/10 compatible unrelated donors (URD). However, the availability and frequency of haplotypes and HLA alleles are different among ethnic groups and geographical areas, increasing the difficulty of finding identical matches in international registries. In this study, the HLA-A, -B, -C, -DRB1, and -DQB1 loci of 1763 donors registered in the Colombian Bone Marrow Registry were typed by next-generation sequencing. A total of 52 HLA-A, 111 HLA-B, 41 HLA-C, 47 HLA-DRB1, and 20 HLA-DQB1 alleles were identified. The 3 most frequent alleles for each loci were A*24:02g (20,8%), A*02:01g (16,1%), A*01:01g (7.06%); B*35:43g (7.69%), B*40:02g (7.18%), B*44:03g (6.07%); C*04:01g (15.40%), C*01:02g (10.49%), C*07:02g (10.44%); DRB1*04:07g (11.03%), DRB1*07:01g (9.78%), DRB1*08:02g (6.72%); DQB1*03:02g (20.96%), DQB1*03:01g (17.78%) and DQB1*02:01g (16.05%). A total of 497 HLA-A-C-B-DRB1-DQB1 haplotypes were observed with a frequency greater than or equal to 0.05% (> 0.05%); the haplotypes with the highest frequency were A*24:02g~B*35:43g~C*01:02g~DQB1*03:02g~DRB1*04:07g (3.34%), A*29:02g~B*44:03g~C*16:01g~DQB1*02:01g~DRB1*07:01g (2.04%), and A*01:01g~B*08:01g~C*07:01g~DQB1*02:01g~DRB1*03:01g (1.83%). This data will allow the new Colombian Bone Marrow Donor Registry to assess the genetic heterogeneity of the Colombian population and serve as a tool of interest for future searches of unrelated donors in the country.

The novel HLA-A*24 allele, HLA-A*24:487, identified in three unrelated bone marrow donors in Colombia.

Identification of the novel HLA-A*24:487 allele, which differs from HLA-A*24:02:01:01 at one position.

Encuesta de caracterización para el cuidado de una persona con enfermedad crónica / Characterization Survey to Define the Care of a Person with Chronic Disease / Inquérito sobre caracterização para o cuidado de uma pessoa com doença crónica

Objetivo: Desarrollar la encuesta de caracterización para el cuidado de una persona con enfermedad crónica, a fin de utilizarla en el contexto colombiano. Método: Estudio metodológico que, a partir de la revisión de una propuesta de instrumento de caracterización anterior, y como parte del programa para la disminución de la carga de la enfermedad crónica en Colombia, determinó la información básica requerida para valorar a una persona con enfermedad crónica. Se desarrolló en tres fases: 1) revisión de la literatura relacionada con la provisión de cuidado a personas con enfermedad crónica; 2) definición de la encuesta de caracterización para el cuidado de una persona con enfermedad crónica, que se denominó GCPC-UN-P, y 3) validez aparente, que consistió en una prueba de campo con 1850 personas con enfermedad crónica, y una validez con expertos. Resultados: Se obtuvo la encuesta de caracterización GCPC-UN-P de 22 ítems que indagan acerca de tres dimensiones: las condiciones del paciente y su perfil sociodemográfico, la percepción de carga y apoyo, y los medios de información y comunicación. A la validez aparente la totalidad de los ítems son evaluados como comprensibles, claros, coherentes, suficientes, relevantes y esenciales. Conclusiones: La encuesta GCPC-UN-P cuenta con las variables necesarias para la caracterización de una persona con enfermedad crónica en el contexto colombiano.

Objective: To develop the characterization survey to define the care of a person with chronic disease, in order to use it in the Colombian context. Method: Methodological study that determined the basic information required to assess a person with chronic disease after reviewing a previous proposal of a characterization tool and as part of the program for reducing the burden of chronic disease in Colombia. It was developed in three phases: 1) Review of the literature related to the provision of care for people with chronic disease 2) definition of the characterization survey for the care of a person with chronic disease, which was named GCPC-UN-P, and 3) Apparent validity, which consisted of a field trial with 1850 people with chronic disease, and validity with experts. Results: It was obtained a characterization survey GCPC-UN-P of 22 items that ask about three dimensions: patient conditions and socio-demographic profile, perceived burden and support, and communication media. Regarding the apparent validity all items are evaluated as understandable, clear, coherent, adequate, relevant and essential. Conclusions: GCPC-UN-P has the necessary survey for the characterization of a person with chronic illness in the Colombian context variables.

Objetivo: Desenvolver o inquérito de caracterização para o cuidado de uma pessoa com doença crónica, a fim de utilizá-la no contexto colombiano. Método: Estudo metodológico que, a partir da revisão de proposta de instrumento de caracterização anterior, e como parte do programa para diminuição da carga da doença crónica na Colombia, determinou a informação básica requerida para valorar uma pessoa com doença crónica. Desenvolveu-se em tres fases: 1) revisão da literatura relacionada com a provisão de cuidado a pessoas com doença crónica; 2) definição do inquérito de caracterização para o cuidado de uma pessoa com doença crónica, nomeada GCPC-UN-P, e 3) validez aparente, que consistiu em um teste de campo com 1850 pessoas com doença crónica, e uma validez com peritos. Resultados: Obteve-se o inquérito de caracterização GCPC-UN-P de 22 itens que investigava acerca de tres dimensões: as condições do paciente e seu perfil sociodemográfico, a percepção de carga e apoio, e os meios de informação e comunicação. A validez aparente a totalidade dos itens são avaliados como compreensíveis, claros, coerentes, suficientes, relevantes e essen-ciais. Conclusões: O inquérito GCPC-UN-P conta com as variáveis necessárias para a caracterização de uma pessoa com doença crónica no contexto colombiano.