Factor X Deficiency Due to a Compound Heterozygosis Between a New Mutation (Gla72Asp) in Exon 2 and an Already Known one (Gly154Arg) in Exon 5 : Factor X Mar Del Plata1)
Copyright© Bentham Science Publishers; For any queries, please email at epubbenthamscience.net..
BACKGROUND: Investigation of rare bleeding disorders in Latin-America.
OBJECTIVES: The report of a new case of FX deficiency due to a compound heterozygosis.
METHODS: Accepted clotting procedures were used. Sequencing of DNA was carried out by means of Applied Biosystems Instruments.
RESULTS: A compound heterozygote due to the association of a new mutation (Gla72Asp) with an already known mutation (Gly154Arg) of the FX gene is reported. The proposita is a 38 year old female who had a moderate bleeding tendency (menorrhagia, epistaxis, easy bruising). The proposita has never received substitution therapy but in the occasion of a uterine biopsy. The mother was asymptomatic but was a heterozygote for the new mutation. The father was asymptomatic but had deserted the family and could not be investigated. After this abandonment the mother of the proposita re-married with an asymptomatic man and she gave birth to a son who was asymptomatic but was also heterozygous for the new mutation (Gla72Asp). As a consequence it has to be assumed that the first husband of the mother of the proposita was heterozygous for the known mutation (Gly154Arg).
CONCLUSIONS: This is the third case of a new mutation in the FX gene reported, during the past few years, in Argentina.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2019 |
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| Erschienen: |
2019 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:19 |
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| Enthalten in: |
Cardiovascular & hematological disorders drug targets - 19(2019), 2 vom: 17., Seite 169-173 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Girolami, Antonio [VerfasserIn] |
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| Links: |
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| Themen: |
Bleeding |
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| Anmerkungen: |
Date Completed 01.07.2020 Date Revised 01.07.2020 published: Print Citation Status MEDLINE |
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| doi: |
10.2174/1871529X19666181212103944 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM291698131 |
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| 500 | |a Date Revised 01.07.2020 | ||
| 500 | |a published: Print | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a Copyright© Bentham Science Publishers; For any queries, please email at epubbenthamscience.net. | ||
| 520 | |a BACKGROUND: Investigation of rare bleeding disorders in Latin-America | ||
| 520 | |a OBJECTIVES: The report of a new case of FX deficiency due to a compound heterozygosis | ||
| 520 | |a METHODS: Accepted clotting procedures were used. Sequencing of DNA was carried out by means of Applied Biosystems Instruments | ||
| 520 | |a RESULTS: A compound heterozygote due to the association of a new mutation (Gla72Asp) with an already known mutation (Gly154Arg) of the FX gene is reported. The proposita is a 38 year old female who had a moderate bleeding tendency (menorrhagia, epistaxis, easy bruising). The proposita has never received substitution therapy but in the occasion of a uterine biopsy. The mother was asymptomatic but was a heterozygote for the new mutation. The father was asymptomatic but had deserted the family and could not be investigated. After this abandonment the mother of the proposita re-married with an asymptomatic man and she gave birth to a son who was asymptomatic but was also heterozygous for the new mutation (Gla72Asp). As a consequence it has to be assumed that the first husband of the mother of the proposita was heterozygous for the known mutation (Gly154Arg) | ||
| 520 | |a CONCLUSIONS: This is the third case of a new mutation in the FX gene reported, during the past few years, in Argentina | ||
| 650 | 4 | |a Case Reports | |
| 650 | 4 | |a Factor X | |
| 650 | 4 | |a bleeding | |
| 650 | 4 | |a compound heterozygosis | |
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| 650 | 4 | |a menorrhagia. | |
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| 700 | 1 | |a Nenkies, Marcelo Leonardo |e verfasserin |4 aut | |
| 700 | 1 | |a Ferrari, Silvia |e verfasserin |4 aut | |
| 700 | 1 | |a Guglielmone, Hugo |e verfasserin |4 aut | |
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