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Hemophilia Awareness Month - Dr. Alfredo Pavlovsky

3/1/2022

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Picture
March is Hemophilia Awareness Month

Pictured: Dr. Alfredo Pavlovsky, an Argentinian physician, discovered there were two common types of hemophilia—A and B—in 1947.

Long ago, it had been noticed that certain families seemed to have issues with excessive bleeding with accounts dating back to the 2nd century AD with deaths in certain male children after circumcisions. Abu Khasim, an Arabian physician in the 10th century, noted that some families seemed to have male children that were susceptible to excessive bleeding after trauma.

This proclivity for bleeding was at one time called “the royal disease” in much of the 19th and 20th centuries as it affected several royal families of England, Germany, Russia, and Spain. Leopold, the son of Queen Victoria of England died at age 30 from uncontrolled hemorrhage sustained in a fall.

Hemophilia roughly translates to mean the love of blood. It is a genetic condition whereby the body does not produce certain proteins that are used to help the blood clot. People with hemophilia are unfortunately predisposed to bleed without stopping. At any given time, one’s blood is in a state of balance between forming and removing clots. If one cannot form a clot, bleeding will continue and can be life threatening even if from a small wound and a mild hit to the head could end a life. The substances in the blood that help us form and regulate blood clots are called factors. Hemophilia A is the absence of Factor VIII and hemophilia B is the absence of Factor IX. There are thirteen factors commonly considered to be part of this biochemical balance. The difference between hemophilia A and B as above was discovered by Dr. Pavlovsky.

Why does this mostly affect males? The gene mutation that causes hemophilia is on the X-chromosome and is a recessive gene. Biologic males have an XY gene combination--therefore any gene on the x-chromosome is likely to be expressed.

Information courtesy of hemophilia.org / picture courtesy of fundacionbyb.org

Max

[Doctor with a mustache]

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