Genetic Testing

Hemophilia in the Land of Fire and Ice

We’re noticing a lot of news about gene therapy lately, with promises it will soon be commercially available for those with hemophilia B. We will see! In the meantime, genetic testing has been on my mind, especially as I flew to Iceland this past weekend. Iceland has been called the perfect genetic laboratory, but not because it has a population of little more than 366,000 people. Or, as one handsome Icelandic man told me last night in a pub, “Can you imagine dating at my age in such a small population?”

Iceland was settled by a small group of Norwegians around AD 900. The country was isolated for the next thousand years and has experienced little immigration. And the Icelanders kept excellent genealogies of their families, meaning we can trace back family lineages for, in some cases, thousands of years. Altogether, Icelanders have a relatively low level of genetic diversity, making it easier for scientists to detect genetic markers. I found one source that said two Icelandic families with a history of breast cancer can be traced back to a common ancestor born in 1711!

Fagradalsfjall volcano erupting this weekend

A third or more of the population has donated a DNA sample, to track familiar connections. This is important if you have a genetic disorder or disease, and want to get married. And if you don’t want to marry a relative!

With a population of only 366,000, there are 67 known people with hemophilia A—of which 47 are mild! Only 13 are severe. There is only one person known to have hemophilia B. Hard to imagine a country with so few people with hemophilia. The good news is that of course, they are well known, registered with the treatment center, and all receive excellent treatment. Iceland has socialized medicine (but don’t forget a 31-46% income tax rate).

From the Icelandic Hemophilia Society website, all people with severe hemophilia receive prophylactic home therapy. Others receive on-demand treatment. Recombinant factors have been used for hemophilia A and B since 1998, and since then, plasma-derived has not been used.

The Icelandic Hemophilia Society was established in 1977, to guard the interests of people with hemophilia, and to provide information and consultation to patients and their families. The board consists of 5 members, elected every second year except the chairman, who is elected every year. The current chairman is Birgir Orn Steingrimsson. All board members and staff work as volunteers.

Laurie Kelley at Fagradalsfjall 

The Icelandic Hemophilia Society is a member of the World Federation of Hemophilia, and the European Hemophilia Consortium.

Iceland is an amazingly beautiful country of cold and strong winds, though with a rather mild climate year round. It’s a land of volcanos, and I was fortunate enough to see the

Fagradalsfjall volcano as it was erupting. No volcanic eruption had occurred for 815 years on the Reykjanes Peninsula—where  Fagradalsfjall  is located—until March 19, 2021 when a vent opened in Geldingadalir, south of the Fagradalsfjall mountain. Lava flowed freely and dramatically until September 18, 2021. This eruption is considered unique among the volcanoes monitored in Iceland.

I arrived this past Friday, August 18,  at 4 am, while my friends back in Boston slept. With me was Trista Blanchard, a hemophilia colleague who I had only met once before at an NHF event several years ago, and who, two days later, became a dear friend. By 6 am, Trista and I were hiking up 4.5 miles to the volcano. We sat on the damp ground, marveling at the volcano’s ferocity, its expression. It roared as it spewed out molten rocks. This is what the beginning of earth must have been like, and we both felt like momentary and forgettable blips in the history of the planet. But happy blips: we felt privileged to witness this stunning geological upheaval. All around us for miles was undulating hardened black basalt, the result of a lava flow that had happened only two weeks ago.

We returned later that day to Reykivik, the capital, and I thought about that one lone Icelander with hemophilia B, whoever he is. He’ll make history, hopefully in the next couple of years, as being the first person in Iceland to receive gene therapy, and hopefully be “cured,” whatever that will mean practically for hemophilia, and for him.

The Supreme Court Decision and Genetic Testing

The recent decision by the Supreme Court regarding abortion rights had me thinking about genetic testing and hemophilia. I recall that when I decided to have another child, following my first who had hemophilia, doctors were pushing for genetic testing. Why? I asked. We had already decided that if a sonogram showed a boy, we would do another C-section. Otherwise, let nature take its course. The doctor kept offering genetic services, but… when I suggested that he wanted the test in case a parent might want an abortion if genetic tests showed hemophilia? The topic not everyone wants to discuss directly? And that would not happen in my case regardless? The conversation ended, happily on both sides.

I recall a case many years ago of a British couple who sued their doctor, because he told them that their unborn child would not have hemophilia. And he indeed did. The implication was that despite having a beautiful baby boy, they were arguing that they would have aborted the fetus, had they known he had hemophilia. So they wanted monetary compensation for bringing their baby with hemophilia to term.

Genetic testing, abortion… topics peppered with landmines of emotion, legality, and belief systems.

But the bottom line is: Do you wonder or know if you or your daughter might be a carrier for a genetic mutation that causes hemophilia? This topic also comes up in Facebook groups from time to time. Supreme Court aside, it’s a good question to consider.

There’s a chance that a female is a carrier if she is the mother, grandmother, or sister of a biological son, grandson, or brother with hemophilia; or the aunt, cousin, or niece of a male with hemophilia related through her mother.  If you or your daughter fits any of these scenarios, you might want to consider genetic testing to determine carrier status. There’s no need in the case of a female born to a male with hemophilia; she is an obligate carrier and will have the gene for hemophilia on one of her X chromosomes.

Genetic testing identifies changes in the normal structures of proteins, genes, and chromosomes. An integral part of genetic testing is the counseling that goes with it, to help patients understand and adapt to medical, psychological, and familial implications of genetics contributing to disease.

Many large health insurance plans cover genetic testing when it’s recommended by a doctor. Often, genetic testing for hemophilia is a covered benefit because learning hemophilia carrier status can impact medical care.  Many insurance companies consider genetic testing medically necessary if a person is at risk for inheriting a disease or disorder.

But insurance coverage for genetic testing is inconsistent among health insurance companies, and even within a single company’s plans.

There are pros and cons to genetic testing. It’s essential to consider the risks of not being tested, given chances of being a carrier, as well as the risks of being tested.

Some pros? Knowing carrier status before a medical procedure can help prevent bleeding complications. It’s probably good to test factor levels of females with a family history of hemophilia at as early an age as possible.  According to NHF’s Medical and Scientific Advisory Council (MASAC), at least 50% of females who are carriers for hemophilia also have factor levels below 50%, putting them at risk for excessive bleeding during delivery of a baby as well as during a surgery, accident, or menstruation.

It’s also important that your daughter understands the risks of being tested. For privacy reasons, some people choose to pay out-of-pocket for genetic testing so that the testing and results do not appear in their medical record. Ask a genetic counselor about the actual cost of testing before consenting. In 2017, eligible potential carriers could seek carrier testing at no cost through NHF’s “My Life Our Future” program at qualified hemophilia treatment centers.

It can be empowering to know if you’re a carrier of a genetic mutation that causes hemophilia. A woman who knows her risk of passing a bleeding disorder on to her child can better advocate for herself. And for her rights and beliefs—whatever they may be— on a national scale.

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