Tag: hemophilia

Four Hemophiliac Patients Successfully Treated with Gene Therapy

By Veronique Greenwood | December 12, 2011 4:53 pm

blood

Hemophilia, a disease whose victims can suffer serious internal bleeding and may bleed to death from injuries, has a long and eventful history. Caused by defective blood clotting factors, the disease has been with us since at least the second century, when a rabbi gave mothers whose first two sons had bled to death from circumcision wounds permission to leave the third sons uncircumcised. It also famously afflicted several members of European royal families. But a study published in the New England Journal of Medicine brings us a bit closer to a new kind of historic event: a cure.

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CATEGORIZED UNDER: Health & Medicine

DNA-Snipping Enzymes Cure Hemophilia in Mice

By Veronique Greenwood | June 27, 2011 2:44 pm

mouse

What’s the News: Hemophilia is perhaps best known as a disease of nineteenth-century royalty (specifically, of the oft-intermarried Hapsburgs), but it has evaded our efforts at a cure for thousands of years. And its effects are gruesome: mutations in the gene for a crucial clotting factor mean that victims can rapidly bleed to death from even small cuts.

Now, researchers working with hemophiliac mice have demonstrated a simple and apparently safe technique to swap in a functioning gene, giving hope for a future respite for sufferers of the disease.

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CATEGORIZED UNDER: Health & Medicine

Prince's Bones Show That Hemophilia Decimated European Royal Families

By Brett Israel | October 12, 2009 7:00 am

Romanov-princeA new genetic analysis has confirmed that the “royal disease” suffered by the male descendants of Queen Victoria was in fact a rare type of hemophilia, the genetic disease marked by a deficiency in blood clotting. Queen Victoria had several sons that died from blood loss after seemingly minor injuries. The disease spread as her descendants married into other royal families across Europe, altering Western history.

Based on the sons’ reported symptoms, modern researchers had already hypothesized that the royals had hemophilia, but there was never any concrete evidence. Now, new DNA analysis on the bones of the last Russian royal family, the Romanovs, indicates the Royal disease was indeed hemophilia, a rare subtype known as hemophilia B [ScienceNOW Daily News]. The genotyping study was published in the journal Science.

To pinpoint the exact form of the disorder, the scientists extracted DNA from the skeletal remains of Queen Victoria’s great grandson Crown Prince Alexei of Russia‘s Romanov family and decoded the genetic information. (The bones were found in 2007, and it was only earlier this year that they were confirmed to have belonged to the murdered prince, who was killed during the Russian revolution.) The new analysis discovered a mutation in a gene on the X chromosome that codes for the production of Factor IX, a substance that causes blood to clot [BBC News]. Since the mutation is on the X chromosome, the disease is carried by females but usually shows up only in male descendants, because they don’t have a second X chromosome with a working copy of the gene. Researchers say the finding of hemophilia B in the Romanov’s closes the case on the cause of “royal disease.”

Related Content:
80beats: DNA Evidence Proves that Romanov Prince and Princess Rest in Peace
80beats: Scientist Wants to Test Abraham Lincoln’s Bloodstained Pillow for Cancer
80beats: The DNA of Medieval Manuscripts May Reveal Their History

Image: State Archives of the Russian Federation

CATEGORIZED UNDER: Health & Medicine
MORE ABOUT: genetics, hemophilia
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