Transfusion of RhD-Positive Blood Products to Asia Type DEL Patients:A Report of Two Cases / 대한수혈학회지

Individuals with Asia type DEL blood group, the RhD-variant that classified as serologically RhD-negative, do not produce anti-D even when exposed to the D-antigen. Therefore, it is considered safe to transfuse RhD-positive blood products to them. However, such transfusions are still rare in medical institutions, with only two cases reported in Korea. Here, we present cases of two additional patients based on our experience. A 60-year-old female patient undergoing extra corporeal membrane oxygenation (ECMO) for myocarditis presented with severe anemia.The patient was serologic RhD-negative. Due to the lack of RhD-negative RBC inventory for emergency transfusion, RhD-positive blood was transfused. After confirming the patient’s RHD genotype as Asia type DEL, the planned RhD-positive blood transfusion was continued. A total of 13 units of RhD-positive RBCs and 26 units of single donor platelets (SDPs) were transfused over 25 days. Throughout this period, all unexpected antibody tests were negative. The second patient, a 50-year-old male diagnosed with myelodysplastic syndrome (MDS), was serologic RhD-negative, and the RHD genotyping confirmed Asia type DEL. During the hospitalization period, a total of 113 units of RhD-positive SDPs and 10 units of fresh frozen plasma (FFP) were transfused over 64 days, and all unexpected antibody tests were negative. These two cases suggest the transfusion of RhD-positive blood products to patients with Asia type DEL is safe.

Clinical Application of ABO Genotyping: 5-Year Experience from a Single Tertiary Care Center in Korea / 대한수혈학회지

Background@#ABO genotyping is performed when the exact ABO blood type cannot be determined through serological testing. Conventionally, only exons 6 and 7 of the ABO gene have been analyzed, but our laboratory introduced additional analysis of the proximal promoter and intron 1 ＋5.8 kb site. Accordingly, we report the clinical use of ABO genotyping and distribution of the ABO subgroups based on our experience over the past 5 years. @*Methods@#A total of 265 samples tested at the Samsung Medical Center from August 2017 to July 2022 were retrospectively analyzed at their request. Serological ABO blood typing and direct sequencing of exons 6 and 7 were performed on all samples, and additional analysis of the regulatory region of the ABO gene was performed on 17 samples. Since some of the ABO discrepant cases revealed multiple causes, a total of 339 causes among 238 ABO discrepant cases were analyzed. @*Results@#Among the total of 265 samples, 89.8% (238/265) exhibited ABO discrepancies. Weak red cell reactivity (51.6%, 175/339) was the most common cause of ABO discrepancy, followed by extra serum reactivity (35.7%, 121/339). Among the samples, 40.8% (108/265) were identified as ABO subgroups. Among the 108 ABO subgroup alleles, cisAB.01 in exons 6 and 7 accounted for 82 cases (75.9%, 82/108), and two g.10925C＞T mutations in intron 1 ＋5.8 kb were identified. @*Conclusion@#Through our recent experience of the last 5 years of ABO genotyping, we elucidated the cause of ABO discrepancies and ABO subgroup alleles. The extended sequencing of the regulatory region of the ABO gene was helpful for further understanding the ABO discrepancy caused by weak red cell reactivity. (Korean J Blood Transfus 2023;34:12-20)

Transfusion of RhD-Positive Blood Components to Serologic RhD-Negative Patients-Review of Current Literature: An Opinion / 대한수혈학회지

Among RhD variants, it is considered safe to transfuse RhD positive blood to “Asia-type” DEL and weak D type 1, 2, and 3 recipients. However, transfusing RhD-positive blood cells in the “Asia-type” DEL, (serologically typed as RhD-negative), is still a cause for concern among clinicians. Here, the safety of transfusing RhD-positive blood components to “Asia-type” DEL recipients is re-emphasized by reviewing previously published literature.

A pathogenic PHEX variant (c.1483-1G>C) in a Korean patient with X-linked hypophosphatemic rickets

X-linked hypophosphatemic rickets is an X-linked dominantly inherited disorder characterized by defects in renal phosphate transport leading to phosphate wasting and hypophosphatemia. In this report, we describe a case of X-linked hypophosphatemic rickets in a patient with a rare pathogenic PHEX variant. The 25-year-old female patient came to our clinic for genetic counseling regarding presumed genetic disease and pregnancy. When she was 9 years old, she had been diagnosed with vitamin D-resistant rickets based on laboratory results and symptoms. She had undergone orthopedic surgery due to bowing leg deformities. Since then, she was intermittently self-prescribing oral phosphate and calcium supplements. At 25 years old, she was diagnosed with X-linked hypophosphatemic rickets with a rare pathogenic PHEX variant (c.1483-1G>C) by next-generation sequencing. This is the second report of the c.1483-1G>C variant to date, and her pathogenicity was confirmed based on the most recent guideline. Traditionally, the disease had been diagnosed mostly based on clinical findings. However, with advancements in genetic testing, genetic confirmation has become an imperative part of diagnostic workup. Herein, we report a 25-year-old female Korean patient diagnosed with X-linked hypophosphatemic rickets harboring a rare pathogenic PHEX variant.

A pathogenic PHEX variant (c.1483-1G>C) in a Korean patient with X-linked hypophosphatemic rickets

X-linked hypophosphatemic rickets is an X-linked dominantly inherited disorder characterized by defects in renal phosphate transport leading to phosphate wasting and hypophosphatemia. In this report, we describe a case of X-linked hypophosphatemic rickets in a patient with a rare pathogenic PHEX variant. The 25-year-old female patient came to our clinic for genetic counseling regarding presumed genetic disease and pregnancy. When she was 9 years old, she had been diagnosed with vitamin D-resistant rickets based on laboratory results and symptoms. She had undergone orthopedic surgery due to bowing leg deformities. Since then, she was intermittently self-prescribing oral phosphate and calcium supplements. At 25 years old, she was diagnosed with X-linked hypophosphatemic rickets with a rare pathogenic PHEX variant (c.1483-1G>C) by next-generation sequencing. This is the second report of the c.1483-1G>C variant to date, and her pathogenicity was confirmed based on the most recent guideline. Traditionally, the disease had been diagnosed mostly based on clinical findings. However, with advancements in genetic testing, genetic confirmation has become an imperative part of diagnostic workup. Herein, we report a 25-year-old female Korean patient diagnosed with X-linked hypophosphatemic rickets harboring a rare pathogenic PHEX variant.

Isolation of Carnobacterium divergens from Blood Culture in Korea : A Case Report and Literature Review / 대한임상미생물학회지

Carnobacterium is a genus of gram-positive bacilli belonging to the family Lactobacillaceae.Generally, Carnobacterium species are considered nonpathogenic to humans and are mostly found in the natural environment, food, and food packaging. Furthermore, some Carnobacterium species play a bioprotective role in the food industry. Isolation of Carnobacterium from human blood or other sites, such as skin or abscess, has rarely been reported—there are only four published case reports worldwide, and none of them is from Korea. In all the reported cases, the patients reported contact with an aqueous environment or were administered nutrition via a parenteral route. Herein, we report the detection of Carnobacterium divergens bacteremia in an immunocompromised patient by using mass spectrometry in Korea.

A Rare Case of Acute Myeloid Leukemia With SET-NUP214 Fusion and Massive Hyperdiploidy

No abstract available.

Distribution of Hemoglobin Concentration before Transfusion for Evaluation of Appropriateness of Red Blood Cell Transfusion / 대한수혈학회지

Red blood cell transfusions have been associated with the risk of transfusion transmitted infections, and inappropriate transfusions may have an adverse effect on the patient's clinical course. The laboratory information system was used to examine the distribution of the hemoglobin level before transfusion and to use it as a basis for evaluating the appropriateness. A program was developed for assessing the hemoglobin level that was checked within five days before a red blood cell transfusion. The hemoglobin level was analyzed according to each clinical department and the site where the transfusion had been done from Jun to Dec 2018. A total of 10,520 units of red blood cells were transfused, and leuko-reduced units accounted for 2,225 units (21.2%). The hemoglobin measurements were taken in all units within five days. The median hemoglobin level before the transfusion was 7.9 g/dL. A significant difference in the hemoglobin level (P<0.0001) was observed among clinical departments and transfusion sites. The median hemoglobin level in cardiology was significantly higher than the other medical sub-departments. The hemoglobin level was significantly higher in the operating room (10.3 g/dL) than in the hemodialysis room (7.15 g/dL). The difference in the distribution of the hemoglobin level before a transfusion may be used as data for communication with the clinical department.

Acute Hemolytic Transfusion Reaction due to ABO-Incompatible Blood Transfusion: A Fatal Case Report and Review of the Literature / 대한수혈학회지

A 77-year-old female patient who was suspected to have had an acute hemolytic transfusion reaction was admitted to the emergency room. She received one unit of type A red blood cells in a type B patient during a total knee arthroplasty operation at another medical institution. ABO-incompatible transfusion was carried out due to an identification error between the patient and blood product. At the time of admission, acute hemolytic reaction, lactic acidosis, and disseminated intravascular coagulation were observed. She was admitted to the intensive care unit and received continuous renal replacement therapy. She maintained renal function and was moved to the general ward on the 7th day. Complications such as pulmonary edema, gastrointestinal bleeding, and ischemic colitis persisted, and the patient died on the 111th after admission. This case is the first report of death due to an ABO-incompatible transfusion in Korea. Efforts to establish a safe transfusion environment are necessary not only at individual medical institutions but also at the national level.

Difference in Characteristics in the Formation of Anti-E and Anti-E/-c in Patients with the CDe Phenotype / 대한수혈학회지

BACKGROUND: Anti-E or paired anti-E/-c antibodies can develop in patients with the Rh CDe phenotype. This study examined the differences in transfusion in patients with the CDe phenotype according to formation of anti-E or anti-E/-c antibodies. METHODS: Retrospective reviews were carried out on the results of antibody identification tests performed in 2014. The Rh phenotype and antibody specificity were investigated. The transfusion and medical records of patients with the CDe phenotype were examined. RESULTS: In total, 76 patients were included in the review. Of these 76 patients, 38 (50.0%) were of the CDe phenotype. Anti-E antibodies were the most frequent (60.5%), followed by anti-E/-c antibodies (23.7%). The total transfusion units and platelet transfusion units were significantly higher in patients with anti-E/-c antibodies (P=0.028 and P=0.01, respectively). The distribution of categorized diseases was similar in the patients with the anti-E and anti-E/-c antibodies. A frequency of transfusion episodes greater than or equal to four was higher in patients with hepatobiliary diseases (85.7%). CONCLUSION: In CDe phenotype patients, platelet transfusion was significantly higher in the anti-E/-c positive group than the anti-E positive group, indicating that platelets play a role in red blood cell alloimmunization. Because E is the most immunogenic antigen in Korea, it is important to define the disease group, in which patients with CDe phenotype require a transfusion of E and c-negative blood.

A Case of Bone Marrow Necrosis in B-Acute Lymphoblastic Leukemia with Philadelphia Chromosome at Presentation

Bone marrow necrosis (BMN) is a pathologic state which is derived from various disease entities. Most commonly, it is accompanied by hematologic malignancies such as acute leukemia. The patients with marrow necrosis are generally known to have dismal prognoses but variations exist according to early diagnosis. Here we report a case of BMN in an acute lymphoblastic leukemia patient with Philadelphia chromosome at presentation.

Revisiting the Pre-transfusion Test: A Case of Acute Hemolytic Transfusion Reaction due to Multiple Alloantibodies of Anti-E, Anti-c, Anti-Jk(b) / 대한수혈학회지

We report a case of acute hemolytic transfusion reaction due to multiple alloantibodies. A 41-year-old male with multiple histories of transfusion was admitted for jaundice and oliguria after receiving two units of red blood cells in a local clinic. He showed acute renal failure and disseminated intravascular coagulation. Direct Coombs test was negative and antibody screening test showed strong positive results. Anti-E, anti-c, and anti-Jk(b) antibodies were identified in two panels of unexpected antibody assays. Acute hemolytic transfusion was diagnosed, and he was discharged after 1 month of supportive treatment. Unexpected antibody detection tests, including the antiglobulin phase, should be performed to prevent adverse transfusion reactions by unexpected antibodies. Better precision and quality control are necessary when performing pre-transfusion tests.