The First Case of Eggerthella lenta Bacteremia in Korea

No abstract available.

Establishment of Platelet Antigen and Antibody Tests by Mixed Passive Hemagglutination with Frozen-stored Platelets / 대한수혈학회지

BACKGROUND: Platelet antigen and antibody tests have been used in platelet immunological disorders, such as neonatal alloimmune thrombocytopenia (NAIT) and post-transfusion purpura (PTP). Mixed passive hemagglutination (MPHA) method has several advantages, including frozen preservation of platelets, ability to differentiate between anti-HLA and platelet-specific antibodies, and quick and easy interpretation without expensive equipment. In this study, we intended to develop the MPHA method using indicator cells of anti-Rh(D) sensitized group O, Rh+ RBCs. METHODS: We made indicator cells sensitized with anti-Rh(D) with various strengths (1:32 to 1:256) and determined the optimal strength. We determined the sensitivity of the MPHA and compared the results using flow cytometry. We observed the changes of the reaction according to the storage time of indicator cells. RESULTS: The optimal sensitization strengths of the indicator cells were 1:192 and 1:256. MPHA showed strong positive results with 1:8,192 diluted positive control, while the detection limit of flow cytometry was 1:128. Until the second week (mean 16 days), the indicator cells showed good results comparable to those of fresh ones. CONCLUSION: We developed the MPHA method using indicator cells of anti-Rh(D) sensitized group O, Rh+ RBCs. We produced the indicator cells in our own laboratory and obtained platelet panels with rare antigen typing using frozen-stored platelets. This technology will be used effectively for detection of platelet antigens and identification of platelet antibodies and also for platelet crossmatching.

Bleeding Tendency of a Light Chain (AL) Amyloidosis Patient Accompanied by Asymptomatic Plasma Cell Myeloma

We present a case of abrupt-onset hemorrhagic tendency in a patient with amyloidosis who also had asymptomatic plasma cell myeloma. The patient was a 66-yr-old man with no previous history of hemorrhagic tendency and no family history of hemorrhagic disease. On examination, the prothrombin time and activated partial thromboplastin time were found to be prolonged and were not corrected even after a mixing test; moreover, the levels of coagulation factors I, II, V, VII, and X were almost normal. We therefore considered the presence of a nonspecific coagulation inhibitor. Although the von Willebrand factor (vWF) activity and vWF antigen level were normal due to sampling following transfusion, the increased closure time on PFA-100 (Siemens) analysis and the absence of ristocetin-induced platelet aggregation suggested the presence of acquired von Willebrand syndrome (vWS). After chemotherapy, the patient showed alleviation in the bleeding symptoms. Therefore, testing for acquired vWS should be considered when a patient has a history of recent bleeding with underlying amyloidosis.

Human Platelet Antigen Genotyping Using a Multiplex Single-Base Primer Extension Reaction in Koreans / 대한수혈학회지

BACKGROUND: Alloimmunization of human platelet antigens (HPA) is associated with clinically significant disease, such as platelet refractoriness, neonatal alloimmune thrombocytopenia, or posttransfusion purpura. It is determined by single nucleotide polymorphism of genes for platelet membrane glycoprotein. To date, approximately 27 HPAs have been discovered, and their frequencies differ depending on ethnicity and country. METHODS: We conducted an investigation of prevalence of HPA in the Korean population using a multiplex single-base primer extension reaction (SNaPshot). With 84 specimens from healthy donors, HPA genotyping was performed on 11 different HPAs, including HPA-1, -2, -3, -4, -5, -6, -7, -8, -9, -13, and -15. RESULTS: A total of 90 blood samples were genotyped. The genotype frequencies of HPA were as follows: HPA-1a/1a: 100.0%, -2a/2a: 83.3%, -2a/2b: 14.3%, -2b/2b: 2.4%, -3a/3a: 39.3%, -3a/3b: 52.4%, -3b/3b: 8.3%, -4a/4a: 100.0%, -5a/5a: 95.2%, -5a/5b: 4.8%, -6a/6a: 94.0%, -6a/6b: 6.0%, -7a/7a: 100.0%, -8a/8a: 100.0%, -9a/9a: 97.6%, -9a/9b: 2.4%, -13a/13a: 100.0%, -15a/15a: 23.8%, -15a/15b: 51.2%, and -15b/15b: 25.0%. CONCLUSION: The SNaPshot assay was employed for detection of SNPs in various clinically significant HPA genes. In addition to well-known frequencies of previously reported HPA-1 to -8, this study showed frequencies of HPA-9, -13, and -15 in Koreans for the first time. The SNaPshot technique might be suitable for use in actual clinical testing in patients with platelet alloimmunization.

A Case Report of Fanconi Anemia Diagnosed by Genetic Testing Followed by Prenatal Diagnosis

Fanconi anemia (FA) is a rare genetic disorder affecting multiple body systems. Genetic testing, including prenatal testing, is a prerequisite for the diagnosis of many clinical conditions. However, genetic testing is complicated for FA because there are often many genes that are associated with its development, and large deletions, duplications, or sequence variations are frequently found in some of these genes. This study describes successful genetic testing for molecular diagnosis, and subsequent prenatal diagnosis, of FA in a patient and his family in Korea. We analyzed all exons and flanking regions of the FANCA, FANCC, and FANCG genes for mutation identification and subsequent prenatal diagnosis. Multiplex ligation-dependent probe amplification analysis was performed to detect large deletions or duplications in the FANCA gene. Molecular analysis revealed two mutations in the FANCA gene: a frameshift mutation c.2546delC and a novel splice-site mutation c.3627-1G>A. The FANCA mutations were separately inherited from each parent, c.2546delC was derived from the father, whereas c.3627-1G>A originated from the mother. The amniotic fluid cells were c.3627-1G>A heterozygotes, suggesting that the fetus was unaffected. This is the first report of genetic testing that was successfully applied to molecular diagnosis of a patient and subsequent prenatal diagnosis of FA in a family in Korea.