Literature DB >> 30369771

A Very Rare Case with Particular H-deficient Phenotypes.

Min Song1, Shuming Zhao1, Tianlun Jiang1, Hua Lu1.   

Abstract

Bombay phenotype, H partially deficient non secretor phenotype and Para-Bombay phenotype are rare blood groups with deficiency or absence of H antigen. A 52-year-old female with Chronic suppurative otitis media was referred to our hospital. The primary serologic results of ABO blood typing were discrepant in forward and reverse grouping. Further, the saliva secretion tests, the pedigree studies and the sequence analysis were performed to confirm the rare phenotype. The patient was diagnosed as a variant H-deficient phenotype, secretor (para-bombay). Red cells of the patient have no H antigens, and it's a very interesting thing that there were two opposite results in the saliva test by using different anti-H. The test showed that H substances were present in the saliva by using anti-H from Libo Biotechnology Co, while which were absent by using anti-H from Shanghai blood center. The patient's Lewis phenotype was Le (a-b+). Anti-HI was present in the sera of her. The sequence of the ABO gene of the patient was 261delG and 467C>T heterozygote by direct DNA sequencing and was assigned as A102/O01. There were two mutations of the patient's FUT1, 328G/A and 658C/T, which were identified by DNA sequencing compared with the reference sequence (GenBank, NG_007510.2). In this case, we report a patient with particular H-deficient phenotype, secretor, which showed opposite results in the saliva test by using anti-H from different sources. We suspect that it is a variant of para-Bombay phenotype.

Entities:  

Keywords:  Blood group; H-deficient phenotypes; Red cell

Year:  2018        PMID: 30369771      PMCID: PMC6186255          DOI: 10.1007/s12288-018-0915-3

Source DB:  PubMed          Journal:  Indian J Hematol Blood Transfus        ISSN: 0971-4502            Impact factor:   0.900


  20 in total

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4.  The summary of FUT1 and FUT2 genotyping analysis in Chinese para-Bombay individuals including additional nine probands from Guangzhou in China.

Authors:  Guangping Luo; Ling Wei; Zhen Wang; Hong Luo; Yang Zhao; Runqing Zhang; Chunyan Mo; Yanli Ji
Journal:  Transfusion       Date:  2013-04-08       Impact factor: 3.157

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Journal:  Transfusion       Date:  2011-06-09       Impact factor: 3.157

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Journal:  Transfusion       Date:  2000-07       Impact factor: 3.157

7.  Sequence and expression of a candidate for the human Secretor blood group alpha(1,2)fucosyltransferase gene (FUT2). Homozygosity for an enzyme-inactivating nonsense mutation commonly correlates with the non-secretor phenotype.

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Journal:  J Biol Chem       Date:  1995-03-03       Impact factor: 5.157

8.  Acute hemolysis of transfused A2 red cells by an auto-HI antibody.

Authors:  Kamran Darabi; Robert S Makar
Journal:  Transfusion       Date:  2008-05       Impact factor: 3.157

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Authors:  Wei Geng; Huan-Huan Gao; Lin-Wei Zhang
Journal:  Zhongguo Shi Yan Xue Ye Xue Za Zhi       Date:  2016-06

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Journal:  Biochem Biophys Res Commun       Date:  2009-11-11       Impact factor: 3.575

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