A novel frameshift mutation in RHAG leads to Rhnull phenotype in a Chinese individual
© 2024 AABB..
BACKGROUND: We recently encountered a Rhnull phenotype proband within one family in the Chinese population. Rhnull is a rare autosomal recessive disorder characterized by the absence of the Rh antigens on the erythrocyte membrane, resulting in chronic hemolytic anemia. This study described the serological and molecular analysis of a Chinese Rhnull proband and his immediate family.
METHODS: Red blood cells antigen phenotyping and antibody screening/identification were conducted. RHD, RHCE, and RHAG were analyzed using genomic DNA by polymerase chain reaction and sequence analysis.
RESULTS: Serologic tests showed a D-C-E-c-e- phenotype in the proband associated with the suspicion of anti-Rh29 (titer 16). Molecular analyses showed a new mutation (c.406dupA) in exon 3 of RHAG. This duplication introduced a reading frameshift (p.Thr136AsnfsTer21). The RHAG mutation was found in the homozygous state for the proband and heterozygous state for his parents.
CONCLUSION: We identified a novel RHAG mutation resulting in the Rhnull phenotype of the regulator type. Inheritance of the novel allele was shown by family study.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2024 |
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| Erschienen: |
2024 |
| Enthalten in: |
Zur Gesamtaufnahme - year:2024 |
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| Enthalten in: |
Transfusion - (2024) vom: 02. Apr. |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Qing, Yun [VerfasserIn] |
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Date Revised 02.04.2024 published: Print-Electronic Citation Status Publisher |
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| doi: |
10.1111/trf.17817 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM370516109 |
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| 245 | 1 | 2 | |a A novel frameshift mutation in RHAG leads to Rhnull phenotype in a Chinese individual |
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| 520 | |a © 2024 AABB. | ||
| 520 | |a BACKGROUND: We recently encountered a Rhnull phenotype proband within one family in the Chinese population. Rhnull is a rare autosomal recessive disorder characterized by the absence of the Rh antigens on the erythrocyte membrane, resulting in chronic hemolytic anemia. This study described the serological and molecular analysis of a Chinese Rhnull proband and his immediate family | ||
| 520 | |a METHODS: Red blood cells antigen phenotyping and antibody screening/identification were conducted. RHD, RHCE, and RHAG were analyzed using genomic DNA by polymerase chain reaction and sequence analysis | ||
| 520 | |a RESULTS: Serologic tests showed a D-C-E-c-e- phenotype in the proband associated with the suspicion of anti-Rh29 (titer 16). Molecular analyses showed a new mutation (c.406dupA) in exon 3 of RHAG. This duplication introduced a reading frameshift (p.Thr136AsnfsTer21). The RHAG mutation was found in the homozygous state for the proband and heterozygous state for his parents | ||
| 520 | |a CONCLUSION: We identified a novel RHAG mutation resulting in the Rhnull phenotype of the regulator type. Inheritance of the novel allele was shown by family study | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a RHAG | |
| 650 | 4 | |a Rhnull | |
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| 700 | 1 | |a Cui, Dan-Li |e verfasserin |4 aut | |
| 700 | 1 | |a Yang, Jun-Hong |e verfasserin |4 aut | |
| 700 | 1 | |a Huang, Xia |e verfasserin |4 aut | |
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