Double-homozygosity for Factor V Leiden and Prothrombin c.*97G > A Mutation in a Young Female with Recurrent Fetal Losses and no Venous Thromboembolism
Factor V Leiden (FVL) and factor II c.*97G > A mutation are the two most common genetic factors predisposing to hereditary thrombophilia. Being extremely rare, it used to be thought that double homozygosity for both variants is inconsistent with life. Only two cases describing double-homozygous p...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2020-11-01
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| Series: | Human Pathology: Case Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2214330020300742 |
| _version_ | 1819143781031608320 |
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| author | Ibrahim Abukhiran Judy Jasser Sharathkumar Bhagavathi |
| author_facet | Ibrahim Abukhiran Judy Jasser Sharathkumar Bhagavathi |
| author_sort | Ibrahim Abukhiran |
| collection | DOAJ |
| description | Factor V Leiden (FVL) and factor II c.*97G > A mutation are the two most common genetic factors predisposing to hereditary thrombophilia. Being extremely rare, it used to be thought that double homozygosity for both variants is inconsistent with life. Only two cases describing double-homozygous patients with venous thrombosis were reported about two decades ago. However, to the best of our knowledge, there has been no reported case of double-homozygous individuals presenting with recurrent fetal losses rather than venous thrombosis. Herein, we present the case of a 36-year-old female who presented with recurrent first trimester miscarriages without developing venous thromboembolism. Testing with allele-specific polymerase chain reaction showed double-homozygous pattern for both FVL and factor II c.*97G > A mutation, both of which were confirmed by next generation DNA sequencing. With a population prevalence of less than one per ten million individuals, double-homozygotes’ actual increase in risk for venous thromboembolism or fetal loss is unknown. |
| first_indexed | 2024-12-22T12:31:41Z |
| format | Article |
| id | doaj.art-2c4f2f36ab6e458da875e4d77a73b312 |
| institution | Directory Open Access Journal |
| issn | 2214-3300 |
| language | English |
| last_indexed | 2024-12-22T12:31:41Z |
| publishDate | 2020-11-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Human Pathology: Case Reports |
| spelling | doaj.art-2c4f2f36ab6e458da875e4d77a73b3122022-12-21T18:25:39ZengElsevierHuman Pathology: Case Reports2214-33002020-11-0122200425Double-homozygosity for Factor V Leiden and Prothrombin c.*97G > A Mutation in a Young Female with Recurrent Fetal Losses and no Venous ThromboembolismIbrahim Abukhiran0Judy Jasser1Sharathkumar Bhagavathi2Corresponding author at: 200 Hawkins Drive, Iowa city, IA 52246, USA.; Department of Pathology, University of Iowa Hospitals and Clinics, Iowa City, IA, USADepartment of Pathology, University of Iowa Hospitals and Clinics, Iowa City, IA, USADepartment of Pathology, University of Iowa Hospitals and Clinics, Iowa City, IA, USAFactor V Leiden (FVL) and factor II c.*97G > A mutation are the two most common genetic factors predisposing to hereditary thrombophilia. Being extremely rare, it used to be thought that double homozygosity for both variants is inconsistent with life. Only two cases describing double-homozygous patients with venous thrombosis were reported about two decades ago. However, to the best of our knowledge, there has been no reported case of double-homozygous individuals presenting with recurrent fetal losses rather than venous thrombosis. Herein, we present the case of a 36-year-old female who presented with recurrent first trimester miscarriages without developing venous thromboembolism. Testing with allele-specific polymerase chain reaction showed double-homozygous pattern for both FVL and factor II c.*97G > A mutation, both of which were confirmed by next generation DNA sequencing. With a population prevalence of less than one per ten million individuals, double-homozygotes’ actual increase in risk for venous thromboembolism or fetal loss is unknown.http://www.sciencedirect.com/science/article/pii/S2214330020300742Factor V LeidenFVLFactor IIc.*97G>AMutationDouble-homozygosity |
| spellingShingle | Ibrahim Abukhiran Judy Jasser Sharathkumar Bhagavathi Double-homozygosity for Factor V Leiden and Prothrombin c.*97G > A Mutation in a Young Female with Recurrent Fetal Losses and no Venous Thromboembolism Human Pathology: Case Reports Factor V Leiden FVL Factor II c.*97G>A Mutation Double-homozygosity |
| title | Double-homozygosity for Factor V Leiden and Prothrombin c.*97G > A Mutation in a Young Female with Recurrent Fetal Losses and no Venous Thromboembolism |
| title_full | Double-homozygosity for Factor V Leiden and Prothrombin c.*97G > A Mutation in a Young Female with Recurrent Fetal Losses and no Venous Thromboembolism |
| title_fullStr | Double-homozygosity for Factor V Leiden and Prothrombin c.*97G > A Mutation in a Young Female with Recurrent Fetal Losses and no Venous Thromboembolism |
| title_full_unstemmed | Double-homozygosity for Factor V Leiden and Prothrombin c.*97G > A Mutation in a Young Female with Recurrent Fetal Losses and no Venous Thromboembolism |
| title_short | Double-homozygosity for Factor V Leiden and Prothrombin c.*97G > A Mutation in a Young Female with Recurrent Fetal Losses and no Venous Thromboembolism |
| title_sort | double homozygosity for factor v leiden and prothrombin c 97g a mutation in a young female with recurrent fetal losses and no venous thromboembolism |
| topic | Factor V Leiden FVL Factor II c.*97G>A Mutation Double-homozygosity |
| url | http://www.sciencedirect.com/science/article/pii/S2214330020300742 |
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