A Dispermic Chimera with Mixed Field Blood Group B and Mosaic 46,XY/47,XYY Karyotype

Chimerism in humans is a rare phenomenon often initially identified in the resolution of an ABO blood type discrepancy. We report a dispermic chimera who presented with mixed field in his B antigen typing that might have been mistaken for the B3 subtype. The propositus is a healthy Korean male blood donor. Neither his clinical history nor initial molecular investigation of his ABO gene explained his mixed field agglutination with murine anti-B. Chimerism was suspected, and 9 short tandem repeat (STR) loci were analyzed on DNA extracted from blood, buccal swabs, and hair from this donor and on DNA isolated from peripheral blood lymphocytes from his parents. The propositus' red blood cells demonstrated mixed field agglutination with anti-B. Exon 6 and 7 and flanking intronic regions of his ABO gene were sequenced and revealed an O01/O02 genotype. B allele haplotype-specific PCR, along with exon 6 and 7 cloning and sequencing demonstrated a third ABO allele, B101. Four STR loci demonstrated a pattern consistent with a double paternal chromosome contribution in the propositus, thus confirming chimerism. His karyotype revealed a mosaic pattern: 32/50 metaphases were 46,XY and 18/50 metaphases demonstrated 47,XYY.

Analysis of Complete Exons and Flanking Introns of ABO Gene in Korean B(3) Blood Donors / 대한수혈학회지

BACKGROUND: There have been several studies aimed at determining the presence of the B(3) specific alleles in Korean B(3) blood donors. However, in these samples, only consensus exons 6 and 7 have been detected. Therefore, this study analyzed the complete exons (1~7) and flanking intronic region of the ABO gene sequence in B(3) donors. METHODS: A total of 12 B(3) blood donors collected at the Gwangju-Chonnam Red Cross Blood Center were identified using standard tube techniques. The genomic DNA was isolated from the peripheral blood and of exons 1~7 including flanking intronic regions were sequenced and an allele specific polymerase chain reaction (AS-PCR) was performed. RESULTS: Complete exon and flanking intronic analysis of the ABO alleles revealed the consensus B101 allele along with either the O01 or O02 allele in 11 out of the 12 donors. The remaining 1 donor had the Bw03/O01 genotype. CONCLUSION: No B(3) specific novel alleles were found in most Korean B(3) donors, and the genetic basis of B(3) blood group could not be explained.

Phenotype and Genotype of Cis-AB Family in Chonnam Area / 대한수혈학회지

BACKGROUND: Cis-AB is a rare blood ABO with unusual inheritance on the same chromosome that result from a point mutation. It is relatively common in Korean and Japanese populations. We analyzed serological and molecular genetic characteristics of the family with cis-AB who had visited Chonnam National University Hospital (CNUH) for 10 years. MATERIAL AND METHODS: The subjects of this study comprised 88 samples derived from cis-AB family of 17 propositi with A2B3 phenotype diagnosed at CNUH between January 1993 and May 2002. Serologic tests for cis-AB were performed in detail on the ABO antigens of 49 samples, polymerase chain reaction - restriction fragment length polymorphism (PCR-RFLP) method for cis-AB genotyping was additionally performed in peripheral blood DNA samples from 19 cases. RESULTS: The phenotypes of 49 cases were composed of 39 cases of A2B3, 7 of A2B, 2 of A1B3 and 1 of A1. ABO genotype on the blood samples from 19 cis-AB cases showed 11 cases of cis-AB/O with phenotype A2B3, 6 of cis-AB/B with phenotype A2B, 1 of cis-AB/A with phenotype A1B3 and 1 of cis-AB/A with phenotype A1. CONCLUSIONS: These data demonstrated that the most frequent type of cis-AB cases in Chonnam area was cis-AB/O with phenotype A2B3 and a case of cis-AB/A with unusual A1 phenotype was found.

Use of blood components, irradiated and filtered blood products in Chonnam University Hospital / 대한수혈학회지

BACGROUND: Recently, transfusion by component blood products instead of whole blood has gradually increased. And also filtered and/or irradiated blood products for the prevention of GVHD and other transfusion reaction has been used. To probe trends of recent transfusion, we analysed the use of blood components from 1989 through 1996 in Chonnam University Hospital. METHODS: We reviewed blood bank records from 1989 through 1996 in Chonnam University Hospital. RESULTS: 1. Total numbers of transfused blood units from 1989 to 1996 were 369,326 and the rate of component transfusion increased from 24.5% (1989) to 99.6% (1996) in Chonnam University Hospital. 2. Total numbers of transfused whole bloods were 5,569 units (24.5%) in 1989, then declined to 327 units (0.5%) in 1996. 3. Transfusion of PRC increased from 9,325 units (41.1%) in 1989 to 24,368 units (35.8%) in 1996, and also FFP from 7,371 units (32.4%) in 1989 to 15,546 units (22.9%) in 1996. 4. Use of platelet concentrates increased 16.4-fold from 2,223 units (2.5%) in 1989 to 36,531 units (46.8%) in 1996. 5. In 1996, percentage of filtered and irradiated blood products was 32.3% from cellular blood products. 6. With the use of the advanced blood seperator, hemapheresis showed slight increase annually. CONCLUSION: This paper will provide the basis of blood supply in Chonnam University Hospital and blood center.

Hematological Recovery of Post-Donated Donors after Plateletpheresis / 대한임상병리학회지

BACKGROUND: To prevent the platelet refractoriness, repeated plateletpheresis is often required in HLA matched single-donors. Korean Transfusion Standard permits the repeated plateletpheresis of a single donor at 72-hour intervals. To evaluate this standard, hematological responses of donors were assessed after plateletpheresis by Haemonetics V50 (Haemonetics Co., USA). METHODS: The pre- and post-donated hematological indices of 22 healthy donors(17 males and 5 females) were evaluated. Single donated donors were 12 males and 4 females. Multiple donated donors were 5 males and one female. Post-donated platelet counts were measured immediately, 6 hours, 12 hours, 1 day, 3 days, 5 days, 7 days and 9 days after plateletpheresis. Platelet aggregation test, serum protein, PT, and aPTT were also examined before and after platelet collection. RESULTS: Only 9 (56.2%) of 16 single-donated donors and 4 (66.7%) of 6 multiple donated donors showed normal restoration up to 97% of platelet counts of pre-donation levels at the day 3. In 9 (75%) of 12 single donated males restoration of platelet count was observed within 3 days, but 3 (75%) of 4 single donated females showed restoration of platelet count within 5 days. Changes of other indices were not significantly different between the pre- and post-donations of platelet. CONCLUSIONS: Although no clinical complication was noted after plateletpheresis, these data suggested that Korean Transfusion Standard on plateletpheresis should be reconsidered.