Genotyping of Dombrock and Lutheran blood group systems in blood donors from the southwestern region of the state of Paraná, Southern Brazil

Abstract Background Lutheran and Dombrock are two blood group systems with low immunogenic antigens; they can cause mild-to-moderate transfusion reactions. For both, immunophenotyping is not performed in the pretransfusion routine in Brazil. In addition, the distribution of their antigenic frequencies is an important marker of ethnicity. Thus, the goal of this study was to carry out the genotyping of the LU*01, LU*02, DO*01 and DO*02 alleles of the Lutheran and Dombrock blood group systems in blood donors from the southwestern region of the state of Paraná, Southern Brazil. Method Genotyping was performed for 251 blood donors by specific allele-polymerase chain reaction. The genotype and allele frequencies were obtained through direct counting and compared with other Brazilian populations using the chi-square test with Yates correction. Results The distribution of genotype frequencies for LU were 0.4% for LU*01/LU*01, 6.8% for LU*01/LU*02 and 92.8% for LU*02/LU*02 and for DO, they were 19.9% for DO*01/DO*01, 44.6% for DO*01/DO*02 and 35.5% for DO*02/DO*02. The allele and genotype frequencies of LU and DO were similar to those expected for Caucasians, but the DO*01/DO*01 genotype frequency was different to other Brazilian populations. The rare LU*01/LU*01 genotype was found in a loyal blood donor. Conclusion The genotyping techniques allowed the evaluation of the LU*01, LU*02, DO*01 and DO*02 alleles in blood donors registered in the Hemotherapy Center of the southwestern region of Paraná, Southern Brazil, and contributed to a genotyped blood donor database.

Screening of rare blood group Lu(a-b-) phenotype and study of its molecular basis in ethnic Han Chinese from Shanghai region / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To study the frequency of rare blood group Lu(a-b-) phenotype in a population from Shanghai region, and to explore the molecular basis of Lu(a-b-) by detecting the Lu and Lu relative mediator gene EKLF/KLF1.</p><p><b>METHODS</b>Donors from Shanghai region were screened for Lutheran blood group by monoclonal anti-Lub using serological methods. Individuals with Lu(b-) were determined Lua, P1 and i antigens. Fifteen exons of the LU gene and 3 exons of the EKLF/KLF1 gene for the identified Lu(a-b-) samples were amplified and sequenced.</p><p><b>RESULTS</b>Ten Lu(a-b-) donors were obtained from 44 331 donors from Shanghai region. No homozygous or heterozygous mutations were found in the LU gene, whilst 7 mutations in EKLF/KLF1 gene were identified in the 10 samples.</p><p><b>CONCLUSION</b>The frequency of rare Lu(a-b-) blood group in Shanghai was approximately 0.02%, and all the individuals had an In(Lu) phenotype. The molecular basis of such samples may be related to mutations in the EKLF/KLF1 gene.</p>

Detection of Anti-Lua in an Unexpected Antibody Screening Test: A Case Report and Literature Review / 대한수혈학회지

Lutheran a antigen (Lua) is detected in 6 to 8% of Caucasians and Africans. In Korean and other Asian populations, it is very rare or nearly absent. Therefore, although Lua has a considerable immunizing capacity, sensitization to Lua is a rare event. Here we report on a rare case of anti-Lua in a 70 year-old female patient with Lu (a-/b+) phenotype and review the relevant literature. Due to the paucity of Lua positive panel cells in antibody screening and identification tests, detection of this rare antibody to Lua antigen is not feasible. Therefore, we should keep in mind the possibility of the misleading false negative result in detection of antibody to this low incidence antigen.

Study on the gene polymorphism of Auberger antigens in Chinese population / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To study the gene polymorphism of the Auberger antigens in Lutheran blood group system in Chinese population and establish a stable, accurate molecular method detecting Auberger antigens.</p><p><b>METHODS</b>Peripheral blood samples from 162 randomly collected and unrelated volunteer blood donors were directly sequenced for the exon 12 at the gene locus of Auberger antigens. PCR products with novel nucleotide were further investigated by restriction fragment length polymorphism (RFLP) analysis.</p><p><b>RESULTS</b>Auberger genotypes in the 162 Chinese individuals were obtained: Au(a+ b- )(nt1615A) was found in 119 individuals, Au(a+ b+ ) (nt1615A/G) in 40 individuals and Au(a- b+ ) (nt1615G) in 3 individuals. The allele frequencies of the Au(a) and Au(b) were 0.8580 and 0.1420, respectively. An individual with homozygous Au(a) genotype had a nucleotide mutation (1595 G to T). The mutation was confirmed by digesting the DNA with Hha I.</p><p><b>CONCLUSION</b>The distribution of gene polymorphism of Auberger antigens in a Chinese population was investigated and obtained. And a molecular method determining the Auberger antigen was established. A novel Lutheran allele was deposited in GenBank (accession number EU260043).</p>

Presença de anticorpo anti-Lutheran B em paciente com leucemia linfóide aguda / Anti-Lutheran B in a patient with acute lymphoblastic leukemia

Leucemias agudas necessitam de suporte hemoterápico para serem tratadas adequadamente. A presença do anticorpo anti-Lutheran B e a alta freqüência do antígeno em nossa população dificulta o tratamento de doenças hematológicas que necessitam de suporte transfusional, tais como a leucemia linfóide aguda (LLA). Alternativas de tratamento hemoterápico são abordadas neste artigo. Descreve-se o caso de uma paciente com LLA e anticorpo anti-Lutheran B. A dificuldade em encontrar sangue compatível levou os autores a adotarem estratégia conservadora no tratamento hemoterápico. O uso de eritropoetina e a adoção de protocolo quimioterápico individualizado viabilizaram os resultados obtidos.

Acute leukemia needs hemotherapeutic support to be successfully treated. The Lutheran B antibody, specifically the high frequency of this antigen in our population, has made it difficult to treat hematological malignancies that need transfusional support, including acute lymphoblastic leukemia. Finding compatible blood is complex and so the authors adopted a conservative treatment strategy. The prescription of epoetin and an individualized chemotherapy protocol may improve results. We describe a case report of a patient with anti-Lutheran B antibody and how difficulties to find compatible blood were solved.