TOPONYMS IN HEMATOLOGY

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Do you know how Philadelphia chromosome got its name?

The Philadelphia chromosome was discovered in 1959 by David Hungerford, from Fox Chase Cancer Centre in collaboration with Peter C.Nowell.

David Hungerford was a junior research fellow at Fox Chase Cancer Centre, at the time of discovery and he was pursuing PhD at the University of Pennysylvania. He was working in collaboration with pathologist Peter C.Nowell of the University’s medical school. As a part of his doctoral dissertation, Hungerford was studying leukemic cells on human chromosomes. They discovered a tiny chromosomal abnormality from the cultured blood cells of chronic myeloid leukemia patients and this came to be known as the Philadelphia chromosome later. This was the first consistent chromosome abnormality with neoplasia.

It was discovered by both Hungerford of Fox Chase Cancer Centre and Nowell of the University of Pennysylvania and was therefore named after the city in which both institutions were located.

Do you know how factor V Leiden got its name?

Factor V Leiden is one of the most common hereditary hypercoagulabilty disorder. In 1993, Dahlback and colleagues described three families with history of venous thromboembolism. They demonstrated limited prolongation of the aPTT when APC was added to their plasma and this phenotype was designated as APC resistance (APCR). In 1994, Bertina and colleagues from the University of Leiden, Netherlands demonstrated that APCR co-segregated with the factor V gene and this was due to single base substitution guanine to adenine at position 1691, which produced Arg 506 Gln mutation at one of the APC cleavage sites on factor Va.

This mutation is designated factor V Leiden and it endows activated factor V Leiden with a 10-fold longer half-life in the presence of APC than its wild- type counterpart.

Do you know what 'N' stands for in type 2 N Von willebrand disease (VWD)?

N stands for Normandy, its named as type 2 normandy because it was first described in the Normandy region in France.  It is also known as autosomal form of hemophilia. Affinity of Von Willebrand factor (VWD) for factor VIII is reduced because of mutations in factor VIII binding site or conformational changes that impair VWF-factor VIII interaction. Disproportionate decrease in factor VIII levels relative to VWF levels occur. 

These are some of the toponyms in hematology. 

Please share if you come across any more toponyms. 

References:

1.     https://www.foxchase.org/about-us/history/discoveries-fox-chase-research/philadelphia-chromosome

2.    Hoffman Hematology, Basic Principles and Practice, 7 Th edition.

     

                                                                         Written by Dr.Priyavadhana B

Comments

  1. bpranjan18 August 2020 at 09:54

    It's Really Nice to read like this.. Each name has different nteresting stories 😊😊

    ReplyDelete
  2. Unknown19 August 2020 at 18:24

    its really interesting to know something new , every time you post it on blog.keep writing always priya.

    Thank you.shantha

    ReplyDelete
    Replies
    1. Priyavadhana19 August 2020 at 22:26

      Thank you mam. I will surely keep writing mam.

      Delete
  3. Unknown19 August 2020 at 18:37

    Fresh informations in every blog..I actually wait for blogs ma'am :)

    ReplyDelete
  4. Unknown19 August 2020 at 19:41

    Good read Priyavadana.

    ReplyDelete

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