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Studies on Genomic Variation in Factor VIII and Factor IX Loci Among Indians in the Context of Diagnosis and Management of Hemophilia

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Title Studies on Genomic Variation in Factor VIII and Factor IX Loci Among Indians in the Context of Diagnosis and Management of Hemophilia
 
Creator Saha, Atreyee
 
Subject Molecular & Human Genetics
 
Description The history of Hemophilia shows the human mind attempting to define and
encompass a mysterious yet fascinating phenomenon; and also human heart
responding to the challenge of repeated adversity. Hemophilia was first
described in the Jewish writings of 2nd century AD. A ruling of rabbi Judah the
Patriarch exempts a woman’s third son from being circumcised if his two elder
brothers had died of bleeding after circumcision (Katzenelson 1958; Rosner
1969); and Rabbi Simon ben Gamaliel forbade a boy to be circumcised
because the sons of his mother’s three elder sisters had died after
circumcision (Seligsohn 1973). The first modern description of hemophilia is
attributed to Dr. Conard Otto, a physician in Philadelphia, who in 1803
published a treatise entitled “An account of a hemorrhagic disposition
existing in certain families”. He clearly appreciated the cardinal features of
hemophilia: an inherited tendency of males to bleed (Ingram 1976). Otto
traced back the pedigree of the family he studied to a woman who had
settled near Plymouth, New Hampshire, in about 1720-30. These accounts
began to define a clinical syndrome on which the 19th century developed an
extensive literature. Various long names were used – Hemorrhoea,
idiosyncrasia hemorrhagica, hematophilia, bleeding disease, hereditary
haemorrhagic diathesis; or rather strange name “hemophilia”, love of blood,
occurs in the title of Hopff’s treatise of 1828. Hemophilia B was only
distinguished from more common type in 1952, and is often referred to as
“Christian Disease” after the surname of the first child reported with this
condition.
 
Date 2010
 
Type Thesis
NonPeerReviewed
 
Format application/pdf
 
Identifier http://www.eprints.iicb.res.in/1265/1/Atreyee_thesis.pdf
Saha, Atreyee (2010) Studies on Genomic Variation in Factor VIII and Factor IX Loci Among Indians in the Context of Diagnosis and Management of Hemophilia. PhD thesis, Jadavpur University.
 
Relation http://www.eprints.iicb.res.in/1265/