Earlier this month, police began investigating incidents of birth complications linked with imported fertilized eggs from Georgia for in vitro fertilization treatments in Israel. Investigation revealed that some of these eggs were carriers of a severe genetic disease – hemophilia B.
Dr. Karin Weiss. Photography: Rambam HCC.
In Israel, the import of eggs for in vitro fertilization (IVF) is permissible. However, recently, a block has been placed on the import of eggs from Georgia. At least one baby girl was born with a deformity and one of the women had a stillbirth in connection with eggs imported from Georgia. In addition, a senior doctor at one IVF clinic and a laboratory manager from a hospital in Central Israel have been arrested over the transfer of imported embryos. All cases have in common one thing: both eggs and embryos carried hemophilia B.
The question is: Why was the genetic abnormality not caught earlier?
What is Hemophilia
Hemophilia is a genetic disorder characterized by a deficiency in clotting factors, leading to prolonged and sometimes spontaneous bleeding episodes. The cause of hemophilia is a defect in the X chromosome, and it primarily affects males. Women are typically carriers of the defective gene and may not exhibit symptoms themselves.
There are two main types of hemophilia: hemophilia A and hemophilia B. Both are characterized by a deficiency in specific clotting factors, with hemophilia A involving a deficiency of factor VIII and hemophilia B involving a deficiency of factor IX.
Hemophilia A is more common than hemophilia B, with an incidence of approximately one in 5,000 male births. Hemophilia B is rarer, occurring with a frequency of about one in 20,000 to 30,000 male births.
Dr. Karin Weiss, director of the Genetics Institute at Rambam Health Care Campus (Rambam) in Haifa, Israel explains, “Several coagulation factors in the body are responsible for the blood clotting process. Factor IX is affected in hemophilia, which is a genetic disease affecting a gene linked to the X chromosome. It is primarily expressed in males. Its expression is less in females since they have two copies of the X chromosome and males have both the X and Y chromosomes, so there is no additional chromosome to compensate. Hence, it is not unusual to have a situation where the woman carrying the gene mutation is completely healthy, doesn't know she is a carrier, and passes the disease on to her son.”
Dr. Weiss points out that due to the lack of genetic testing of the entire population, it is very possible for an egg donor to be unaware that they are a carrier because she herself appears healthy.
Physical impact of hemophilia
Both hemophilia A and B involve recurrent bleeding, particularly in the joints, leading to joint destruction and disability. Bleeding can also occur internally and in various locations like the skin and muscles. Even routine procedures can trigger bleeding in infants. Severe cases may lead to brain bleeds, while repeated joint bleeding might require surgery. Timely diagnosis and comprehensive management are crucial to mitigate its impact, as severe bleeding can result in spontaneous and significant blood loss. Early intervention and ongoing care are essential to preserve joint function and improve the quality of life for those with the disorder.
Diagnosis of hemophilia
Dr. Weiss reiterates that healthcare professions only conduct a test for hemophilia when they suspect the disease. “It is not something that can necessarily be known. When there is a donor, you have to ask if there are diseases in the family and if there is a history. You have to do tests accordingly. Hemophilia is not on the list of tests in standard genetic screening.”
Hemophilia is diagnosed through a blood test that measures the levels of clotting factors, particularly factors VIII and IX. A prolonged activated partial thromboplastin time (aPTT) test can indicate a potential deficiency in clotting factors. Further tests are done to assess the activity and levels of factors VIII and IX, determining the severity of the condition as mild, moderate, or severe. This comprehensive evaluation helps in accurate diagnosis and classification of hemophilia, guiding treatment decisions, and management strategies.
What can be done for those undergoing IVF treatments using donor eggs?
Fertility specialist, Dr. Isakov of the Zevulun Medical Clinic near Haifa, underscores the value of comprehensive genetic testing before pregnancy, and an advocate for public awareness and proactive testing beyond Ministry of Health recommendations. For peace of mind, couples should consider an extended genetic panel with counseling tailored to their heritage. For those undergoing IVF treatments, genetic testing of both partners is essential. In cases of egg donation, where donors are often from abroad, extensive genetic testing for the husband is advised, in addition to the standard donor verification performed according to Ministry guidelines.
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