A Rare Prothrombin Gene Mutation C20209T in a South African Patient with Pulmonary Embolism in Pregnancy: a Case Study and Systematic Review.
Clin Lab
; 65(12)2019 Dec 01.
Article
en En
| MEDLINE
| ID: mdl-31850720
ABSTRACT
BACKGROUND:
The G202010A prothrombin gene mutation is a documented prothrombotic risk factor in Caucasian patients. Several other mutations have been described within the prothrombin gene, predominantly in non-Caucasians, including the C20209T mutation. The clinical significance of this mutation is uncertain, but it has been associated with thrombotic events and pregnancy complications.METHODS:
We describe a 28-year-old black South African woman who presented with pulmonary embolism during pregnancy. She was investigated for underlying prothrombotic biomarkers.RESULTS:
Genetic screening for the prothrombin G202010A mutation by real-time polymerase chain reaction and melting curve analysis demonstrated an atypical mutant peak. Sequencing confirmed a variant C20209T prothrombin mutation.CONCLUSIONS:
This is the first report of the C20209T mutation in the Southern African population. It remains uncertain whether genetic testing should be offered routinely to non-Caucasian patients in a resource-limited setting.
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Complicaciones Hematológicas del Embarazo
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Embolia Pulmonar
/
Protrombina
/
Mutación
Tipo de estudio:
Risk_factors_studies
/
Systematic_reviews
Límite:
Adult
/
Female
/
Humans
/
Pregnancy
País/Región como asunto:
Africa
Idioma:
En
Revista:
Clin Lab
Asunto de la revista:
TECNICAS E PROCEDIMENTOS DE LABORATORIO
Año:
2019
Tipo del documento:
Article