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A wide variety of genetic mutations, including two novel variants, were found in a cohort of Vietnamese patients with hemophilia A, according to a recent report.
Dung Vu Luu, MD, of the Hanoi (Vietnam) Medical University and his colleagues conducted a genetic analysis of 103 patients with hemophilia A. The results of the analysis were reported in a letter to the editor published in Haemophilia.
“In this letter, we report the spectrum of F8 mutations in Vietnamese patients with a well‐established clinical diagnosis of hemophilia A,” the researchers wrote.
Clinical assessment and validation of hemophilia was completed by hematologists from Vietnam’s National Institute of Hematology and Blood Transfusion. The team analyzed DNA that was extracted and isolated from blood samples collected from the patients.
After analysis, the researchers found that disease-causing genetic variants were present in 89% of patients. The intron 22 inversion mutation was detected in 34% of patients in the cohort.
Dr. Luu and his colleagues reported that two novel F8 mutations were also detected that resulted in a severe clinical phenotype: c.4550‐4551insA; p.His1518Serfs*13 and c.1268‐1269insG; p.Asp366GluFs*5.
“To our knowledge, and after an extensive search in many databases, these two variants have not been reported in any F8 mutation database or reported in any published articles,” they explained.
The researchers acknowledged that future studies need to be larger in size.
“The results of this study are adding to the global knowledge base for [hemophilia A] and thus will promote better awareness for molecular diagnosis and care for [hemophilia A] patients in Vietnam,” they wrote.
The study was supported by grant funding from the Ministry of Health of Vietnam. The authors reported having no conflicts of interest.
SOURCE: Luu DV et al. Haemophilia. 2019 Mar 26. doi: 10.1111/hae.13738.
A wide variety of genetic mutations, including two novel variants, were found in a cohort of Vietnamese patients with hemophilia A, according to a recent report.
Dung Vu Luu, MD, of the Hanoi (Vietnam) Medical University and his colleagues conducted a genetic analysis of 103 patients with hemophilia A. The results of the analysis were reported in a letter to the editor published in Haemophilia.
“In this letter, we report the spectrum of F8 mutations in Vietnamese patients with a well‐established clinical diagnosis of hemophilia A,” the researchers wrote.
Clinical assessment and validation of hemophilia was completed by hematologists from Vietnam’s National Institute of Hematology and Blood Transfusion. The team analyzed DNA that was extracted and isolated from blood samples collected from the patients.
After analysis, the researchers found that disease-causing genetic variants were present in 89% of patients. The intron 22 inversion mutation was detected in 34% of patients in the cohort.
Dr. Luu and his colleagues reported that two novel F8 mutations were also detected that resulted in a severe clinical phenotype: c.4550‐4551insA; p.His1518Serfs*13 and c.1268‐1269insG; p.Asp366GluFs*5.
“To our knowledge, and after an extensive search in many databases, these two variants have not been reported in any F8 mutation database or reported in any published articles,” they explained.
The researchers acknowledged that future studies need to be larger in size.
“The results of this study are adding to the global knowledge base for [hemophilia A] and thus will promote better awareness for molecular diagnosis and care for [hemophilia A] patients in Vietnam,” they wrote.
The study was supported by grant funding from the Ministry of Health of Vietnam. The authors reported having no conflicts of interest.
SOURCE: Luu DV et al. Haemophilia. 2019 Mar 26. doi: 10.1111/hae.13738.
A wide variety of genetic mutations, including two novel variants, were found in a cohort of Vietnamese patients with hemophilia A, according to a recent report.
Dung Vu Luu, MD, of the Hanoi (Vietnam) Medical University and his colleagues conducted a genetic analysis of 103 patients with hemophilia A. The results of the analysis were reported in a letter to the editor published in Haemophilia.
“In this letter, we report the spectrum of F8 mutations in Vietnamese patients with a well‐established clinical diagnosis of hemophilia A,” the researchers wrote.
Clinical assessment and validation of hemophilia was completed by hematologists from Vietnam’s National Institute of Hematology and Blood Transfusion. The team analyzed DNA that was extracted and isolated from blood samples collected from the patients.
After analysis, the researchers found that disease-causing genetic variants were present in 89% of patients. The intron 22 inversion mutation was detected in 34% of patients in the cohort.
Dr. Luu and his colleagues reported that two novel F8 mutations were also detected that resulted in a severe clinical phenotype: c.4550‐4551insA; p.His1518Serfs*13 and c.1268‐1269insG; p.Asp366GluFs*5.
“To our knowledge, and after an extensive search in many databases, these two variants have not been reported in any F8 mutation database or reported in any published articles,” they explained.
The researchers acknowledged that future studies need to be larger in size.
“The results of this study are adding to the global knowledge base for [hemophilia A] and thus will promote better awareness for molecular diagnosis and care for [hemophilia A] patients in Vietnam,” they wrote.
The study was supported by grant funding from the Ministry of Health of Vietnam. The authors reported having no conflicts of interest.
SOURCE: Luu DV et al. Haemophilia. 2019 Mar 26. doi: 10.1111/hae.13738.
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