SUCCESSFUL ABDOMINAL OPERATION WITHOUT REPLACEMENT THERAPY IN A PATIENT WITH COMBINED FV AND FVIII DEFICIENCY DUE TO NOVEL HOMOZYGOUS MUTATION IN LMAN1
(Abstract release date: 05/21/15)
EHA Library. Wang A. 06/12/15; 102798; PB1702
Disclosure(s): Anhui Provincial Hospital; Anhui Provincial Hemophilia Treatment CenterHematology
Dr. Anyou Wang
Contributions
Contributions
Abstract
Abstract: PB1702
Type: Publication Only
Background
Surgical operations in congenital coagulation factor deficiencies’ patients will increase risk of perioperative bleeding if without adequate replacement therapy. After adequate replacement therapy, patients with hemophilias can have successful experience of surgical operation. Patient with congenital combined FV and FVIII deficiency (F5F8D) can also have successful percutaneous coronary intervention after replacement therapy. There are rare reports about successful surgical operations in patients with F5F8D without adequate replacement therapy.
Aims
We reported that a patient with combined FV and FVIII deficiency had successful abdominal operation without replacement therapy and analyzed the molecular mechanism of the disease for the patient.
Methods
Before the diagnosis of the combined FV and FVIII deficiency, a 35 years old female patient was admitted for abdominal operation due to hydrosalpinx and chocolate cyst of ovary. We do a molecular genetic analysis in the family. Peripheral blood DNA was extracted. All the exons of LMAN1 and MCFD2 genes were PCR amplified and sequenced.
Results
Although with prolong activated partial thromboplastin time and prothrombin time, the patient underwent successful abdominal operation without replacement therapy. She tolerated well for abdominal operation therapy without increase risk of perioperative bleeding. Molecular analysis showed that the patient has a novel homozygous deletion
mutation in exon 12 of LMAN1 (1456delGTG).
Summary
Our results suggest that a F5F8D patient with homozygous deletion mutation in exon 12 of LMAN1(1456delGTG) can safely undergo abdominal operation therapy for hydrosalpinx and chocolate cyst of ovary without fresh frozen plama and recombinant FVIII replacement therapy.
Keyword(s): Coagulation factors, Inherited disease, Mutation, Therapy
Session topic: Publication Only
Type: Publication Only
Background
Surgical operations in congenital coagulation factor deficiencies’ patients will increase risk of perioperative bleeding if without adequate replacement therapy. After adequate replacement therapy, patients with hemophilias can have successful experience of surgical operation. Patient with congenital combined FV and FVIII deficiency (F5F8D) can also have successful percutaneous coronary intervention after replacement therapy. There are rare reports about successful surgical operations in patients with F5F8D without adequate replacement therapy.
Aims
We reported that a patient with combined FV and FVIII deficiency had successful abdominal operation without replacement therapy and analyzed the molecular mechanism of the disease for the patient.
Methods
Before the diagnosis of the combined FV and FVIII deficiency, a 35 years old female patient was admitted for abdominal operation due to hydrosalpinx and chocolate cyst of ovary. We do a molecular genetic analysis in the family. Peripheral blood DNA was extracted. All the exons of LMAN1 and MCFD2 genes were PCR amplified and sequenced.
Results
Although with prolong activated partial thromboplastin time and prothrombin time, the patient underwent successful abdominal operation without replacement therapy. She tolerated well for abdominal operation therapy without increase risk of perioperative bleeding. Molecular analysis showed that the patient has a novel homozygous deletion
mutation in exon 12 of LMAN1 (1456delGTG).
Summary
Our results suggest that a F5F8D patient with homozygous deletion mutation in exon 12 of LMAN1(1456delGTG) can safely undergo abdominal operation therapy for hydrosalpinx and chocolate cyst of ovary without fresh frozen plama and recombinant FVIII replacement therapy.
Keyword(s): Coagulation factors, Inherited disease, Mutation, Therapy
Session topic: Publication Only
Abstract: PB1702
Type: Publication Only
Background
Surgical operations in congenital coagulation factor deficiencies’ patients will increase risk of perioperative bleeding if without adequate replacement therapy. After adequate replacement therapy, patients with hemophilias can have successful experience of surgical operation. Patient with congenital combined FV and FVIII deficiency (F5F8D) can also have successful percutaneous coronary intervention after replacement therapy. There are rare reports about successful surgical operations in patients with F5F8D without adequate replacement therapy.
Aims
We reported that a patient with combined FV and FVIII deficiency had successful abdominal operation without replacement therapy and analyzed the molecular mechanism of the disease for the patient.
Methods
Before the diagnosis of the combined FV and FVIII deficiency, a 35 years old female patient was admitted for abdominal operation due to hydrosalpinx and chocolate cyst of ovary. We do a molecular genetic analysis in the family. Peripheral blood DNA was extracted. All the exons of LMAN1 and MCFD2 genes were PCR amplified and sequenced.
Results
Although with prolong activated partial thromboplastin time and prothrombin time, the patient underwent successful abdominal operation without replacement therapy. She tolerated well for abdominal operation therapy without increase risk of perioperative bleeding. Molecular analysis showed that the patient has a novel homozygous deletion
mutation in exon 12 of LMAN1 (1456delGTG).
Summary
Our results suggest that a F5F8D patient with homozygous deletion mutation in exon 12 of LMAN1(1456delGTG) can safely undergo abdominal operation therapy for hydrosalpinx and chocolate cyst of ovary without fresh frozen plama and recombinant FVIII replacement therapy.
Keyword(s): Coagulation factors, Inherited disease, Mutation, Therapy
Session topic: Publication Only
Type: Publication Only
Background
Surgical operations in congenital coagulation factor deficiencies’ patients will increase risk of perioperative bleeding if without adequate replacement therapy. After adequate replacement therapy, patients with hemophilias can have successful experience of surgical operation. Patient with congenital combined FV and FVIII deficiency (F5F8D) can also have successful percutaneous coronary intervention after replacement therapy. There are rare reports about successful surgical operations in patients with F5F8D without adequate replacement therapy.
Aims
We reported that a patient with combined FV and FVIII deficiency had successful abdominal operation without replacement therapy and analyzed the molecular mechanism of the disease for the patient.
Methods
Before the diagnosis of the combined FV and FVIII deficiency, a 35 years old female patient was admitted for abdominal operation due to hydrosalpinx and chocolate cyst of ovary. We do a molecular genetic analysis in the family. Peripheral blood DNA was extracted. All the exons of LMAN1 and MCFD2 genes were PCR amplified and sequenced.
Results
Although with prolong activated partial thromboplastin time and prothrombin time, the patient underwent successful abdominal operation without replacement therapy. She tolerated well for abdominal operation therapy without increase risk of perioperative bleeding. Molecular analysis showed that the patient has a novel homozygous deletion
mutation in exon 12 of LMAN1 (1456delGTG).
Summary
Our results suggest that a F5F8D patient with homozygous deletion mutation in exon 12 of LMAN1(1456delGTG) can safely undergo abdominal operation therapy for hydrosalpinx and chocolate cyst of ovary without fresh frozen plama and recombinant FVIII replacement therapy.
Keyword(s): Coagulation factors, Inherited disease, Mutation, Therapy
Session topic: Publication Only
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