Contributions
Type: Publication Only
Background
Great progress has been reported during recent years on prenatal diagnosis of several congenital diseases, including hemophilia. In addition, pre-implantation techniques have enabled couples at risk to give birth to healthy babies. In Greece, genetic counseling is offered in specialized centers to all women carriers of hemophilia who opt to seek advice.
Aims
The aim of the present study was to report on new births of hemophilic children in Central-Northern Greece during the last 5 years (January 2010-December 2014).
Methods
Patient records of the Pediatric and Adolescent Center for Hemorrhagic Diseases were retrispecively studied. The Center is one of the 2 pediatric hemophilia centers in Greece, following all patients aged under 18 years, living in the area of Northern and in parts of Central Greece. New births in the given 5 year period were recorded, as well as data regarding age of diagnosis, disease severity, family history and prenatal counseling.
Results
During the study period 12 new patients with hemophilia A were born, 8/11 with severe hemophilia, 2/11 with moderate hemophilia and 2/11 with the mild form of the disease. Overall, 8/11 had a positive and 3/11 a negative family history. In none of the cases was prenatal screening performed, even though 6/8 cases with a known family history were associated with severe hemophilia and in one case death due to the disease in a very young age was reported. Mean age of diagnosis in the a positive history group was 9.8 months (3 days – 3 years), while in 3/8 cases bleeding episodes preceded laboratory investigation. In the negative family history group diagnosis was reported at an earlier mean age (8.5 months, 7 months-12 months), in all cases diagnosis following a bleed. In one of the 3 patients with a negative family history, the mother was pregnant to a second baby - also a hemophiliac- when she was informed of the diagnosis of the first child, but the family did not opt for prenatal screening.
Summary
New births of hemophilia are still recorded, even in cases with known - even severe - family history. This could be attributed to the knowledge of progress in the management of hemophilic children, as well as to religious issues. Weaknesses in the health system’s provision of information regarding availability of prenatal counseling cannot be ruled out.
Keyword(s): Children, Hemophilia
Session topic: Publication Only
Type: Publication Only
Background
Great progress has been reported during recent years on prenatal diagnosis of several congenital diseases, including hemophilia. In addition, pre-implantation techniques have enabled couples at risk to give birth to healthy babies. In Greece, genetic counseling is offered in specialized centers to all women carriers of hemophilia who opt to seek advice.
Aims
The aim of the present study was to report on new births of hemophilic children in Central-Northern Greece during the last 5 years (January 2010-December 2014).
Methods
Patient records of the Pediatric and Adolescent Center for Hemorrhagic Diseases were retrispecively studied. The Center is one of the 2 pediatric hemophilia centers in Greece, following all patients aged under 18 years, living in the area of Northern and in parts of Central Greece. New births in the given 5 year period were recorded, as well as data regarding age of diagnosis, disease severity, family history and prenatal counseling.
Results
During the study period 12 new patients with hemophilia A were born, 8/11 with severe hemophilia, 2/11 with moderate hemophilia and 2/11 with the mild form of the disease. Overall, 8/11 had a positive and 3/11 a negative family history. In none of the cases was prenatal screening performed, even though 6/8 cases with a known family history were associated with severe hemophilia and in one case death due to the disease in a very young age was reported. Mean age of diagnosis in the a positive history group was 9.8 months (3 days – 3 years), while in 3/8 cases bleeding episodes preceded laboratory investigation. In the negative family history group diagnosis was reported at an earlier mean age (8.5 months, 7 months-12 months), in all cases diagnosis following a bleed. In one of the 3 patients with a negative family history, the mother was pregnant to a second baby - also a hemophiliac- when she was informed of the diagnosis of the first child, but the family did not opt for prenatal screening.
Summary
New births of hemophilia are still recorded, even in cases with known - even severe - family history. This could be attributed to the knowledge of progress in the management of hemophilic children, as well as to religious issues. Weaknesses in the health system’s provision of information regarding availability of prenatal counseling cannot be ruled out.
Keyword(s): Children, Hemophilia
Session topic: Publication Only