The history of haemophilia *, †

The h is tory of h a e m o p h i l i a s h o w s the h u m a n mind attempting to define and e n c o m p a s s a mysterious yet fa sc ina t ing p h e n o m e n o n ; and a l s o the h u m a n heart responding to the challenge of repeated adversity. These responses have not remained isolated but have frequently interacted. As doctors have studied haemophilia in order to try to do more for their patients, their investigations have notably advanced our general understanding of haemostasis; and as haemophiliacs have benefited from improvements in their treatment, they have been eager to help by giving blood samples for experiments as well as in raising funds for research. The mutation giving rise to haemophilia is probably of great age because it occurs in at least three Orders of placental m a m m a l s , the Perissodactyla (Ungulata) the Fissipedia (Carnivora) , and the Anthropoidea (Primates); for haemophilia has been described in the horse [1] and in nine breeds of dog [2 -4 ] as well as in various races of man. The Orders to which these groups belong may have been distinct from the end of the Cretaceous, say 65 million years ago; and the mutation has probably recurred independently many times, in all three, since it must be nearly lethal in the wild state. The mutation rate in man has been estimated at about 1-4 χ ΙΟ" [5].

[1]  J. C. Otto An account of an hemorrhagic disposition existing in certain families. , 1951, Clinical orthopaedics and related research.

[2]  J. Haldane,et al.  The Linkage between the Genes for Colour‐blindness and Haemophilia in Man , 1937, Annals of human genetics.

[3]  Y. Sultan,et al.  VON WILLEBRAND DISEASE AS AN ENDOTHELIAL-CELL ABNORMALITY , 1975, The Lancet.

[4]  K N Williams,et al.  A Computer Program for the Analysis of Parallel‐Line Bioassays of Clotting Factors , 1975, British journal of haematology.

[5]  J. Penner,et al.  Activated prothrombin concentrate for patients with factor VIII inhibitors. , 1974, The New England journal of medicine.

[6]  G. Gladstone,et al.  Paul Gordon Fildes, 1882-1971 , 1973, Biographical Memoirs of Fellows of the Royal Society.

[7]  C. Rizza,et al.  Factor-VIII-related antigen in female haemophilia. , 1973, Lancet.

[8]  U. Seligsohn Hemophilia and other clotting disorders. , 1973, Israel journal of medical sciences.

[9]  P. Walsh,et al.  Platelet Coagulant Activities and Clinical Severity in Haemophilia , 1973, Thrombosis and Haemostasis.

[10]  I. Knezevic,et al.  [Biological standardization]. , 1972, Harefuah.

[11]  T. Zimmerman,et al.  Immunologic differentiation of classic hemophilia (factor 8 deficiency) and von Willebrand's dissase, with observations on combined deficiencies of antihemophilic factor and proaccelerin (factor V) and on an acquired circulating anticoagulant against antihemophilic factor. , 1971, The Journal of clinical investigation.

[12]  A. Littell,et al.  Detection of carriers of classic hemophilia using an immunologic assay for antihemophilic factor (factor 8(). , 1971, The Journal of clinical investigation.

[13]  F. Rosner Hemophilia in the Talmud and rabbinic writings. , 1969, Annals of internal medicine.

[14]  R. Biggs Thirty Years of Haemophilia Treatment in Oxford , 1967, British journal of haematology.

[15]  R. G. Macfarlane Russell's Viper Venom, 1934–64 * , 1967, British journal of haematology.

[16]  J. Pool,et al.  Production of high-potency concentrates of antihemophilic globulin in a closed-bag system. , 1965, The New England journal of medicine.

[17]  V. McKusick THE ROYAL HEMOPHILIA. , 1965, Scientific American.

[18]  C. B. Kerr THE FORTUNES OF HAEMOPHILIACS IN THE NINETEENTH CENTURY , 1963, Medical History.

[19]  R. G. Macfarlane,et al.  Equine Haemophilia: Report of a Case and its Response to Multiple Infusions of Heterospecific AHG , 1962, British journal of haematology.

[20]  V. McKusick,et al.  History of Classical Hemophilia in a New England Family , 1962 .

[21]  V. McKusick Historical Note: The Earliest Record of Hemophilia in America? , 1962 .

[22]  L GILCHRIST,et al.  A Female Case of Hæmophilia , 1961, Proceedings of the Royal Society of Medicine.

[23]  E. Blackburn Primary Capillary Haemorrhage (including von Willebrand's Disease) , 1961 .

[24]  A. Khattab,et al.  Christmas disease. , 1960, The Journal of the Egyptian Medical Association.

[25]  L. Jaques Nomenclature of Blood Clotting Factors , 1959, Thrombosis and Haemostasis.

[26]  L. Valberg HÆMOPHILIA A IN A " GIRL " WITH MALE SEX-CHROMATIN PATTERN , 1959 .

[27]  M. Blombäck,et al.  Note on the Purification of Human Antihemophilic Globulin. , 1958 .

[28]  M. Blombäck,et al.  On an inherited autosomal hemorrhagic diathesis with antihemophilic globulin (AHG) deficiency and prolonged bleeding time. , 2009, Acta medica Scandinavica.

[29]  P. Wolf,et al.  A concentrate of human antihaemophilic factor; its use in six cases of haemophilia. , 1957, Lancet.

[30]  E. Page,et al.  Plasma Throinboplastin Component (PTC) Deficiency , 1952, Journal of the American Medical Women's Association.

[31]  C. Holman The Diagnosis and Treatment of Haemophilia and its Related Conditions , 1956 .

[32]  E. Bidwell The Purification of Antihaemophilic Globulin from Animal Plasma , 1955, British journal of haematology.

[33]  E. Bidwell The Purification of Bovine Antihaemophilic Globulin , 1955, British journal of haematology.

[34]  R. Biggs,et al.  Bovine antihaemophilic globulin in the treatment of haemophilia. , 1954, Lancet.

[35]  F. Koller Symposium: What Is Hemophilia?: Is Hemophilia a Nosologic Entity? , 1954 .

[36]  F. Koller Is hemophilia a nosologic entity? , 1954, Blood.

[37]  A. S. Douglas,et al.  The initial stages of blood coagulation , 1953, The Journal of physiology.

[38]  A. S. Douglas,et al.  The formation of thromboplastin in human blood , 1953, The Journal of physiology.

[39]  C. Smith,et al.  Hemorrhagic disease in an infant due to deficiency of a previously undescribed clotting factor. , 1952, Blood.

[40]  E. Page,et al.  Plasma thromboplastin component (PTC) deficiency; a new disease resembling hemophilia. , 1952, Proceedings of the Society for Experimental Biology and Medicine. Society for Experimental Biology and Medicine.

[41]  C. Merskey The occurrence of haemophilia in the human female. , 1951, The Quarterly journal of medicine.

[42]  C. Merskey Haemophilia Associated with Normal Coagulation Time , 1951, British medical journal.

[43]  R. Macfarlane,et al.  The female carrier of haemophilia. A clinical and laboratory study. , 1951, Lancet.

[44]  K. Brinkhous,et al.  Utilization of the antihemophilic factor during clotting of canine blood and plasma. , 1951, The American journal of physiology.

[45]  C. Merskey The Laboratory Diagnosis of Haemophilia , 1950, Journal of clinical pathology.

[46]  J. Buckwalter,et al.  Canine hemophilia; observations on the course, the clotting anomaly, and the effect of blood transfusions. , 1949 .

[47]  A. Pavlovsky,et al.  Contribution to the pathogenesis of hemophilia. , 1947, Blood.

[48]  J. Lewis,et al.  The relation of certain fractions of the plasma globulins to the coagulation defect in hemophilia. , 1946, Blood.

[49]  A. Quick THE DIAGNOSIS OP HEMOPHILIA , 1941 .

[50]  H. Joules,et al.  PSEUDO-HÆMOPHILIA IN A WOMAN , 1938 .

[51]  A NEW METHOD OF TREATMENT IN HAEMOPHILIA , 1937 .

[52]  A. Patek,et al.  HEMOPHILIA. II. SOME PROPERTIES OF A SUBSTANCE OBTAINED FROM NORMAL HUMAN PLASMA EFFECTIVE IN ACCELERATING THE COAGULATION OF HEMOPHILIC BLOOD. , 1937, The Journal of clinical investigation.

[53]  A. Naish,et al.  A NEW METHOD OF TREATMENT IN HÆMOPHILIA , 1936 .

[54]  A. Patek,et al.  HEMOPHILIA. I. THE ABNORMAL COAGULATION OF THE BLOOD AND ITS RELATION TO THE BLOOD PLATELETS. , 1936, The Journal of clinical investigation.

[55]  A. Quick,et al.  A STUDY OF THE COAGULATION DEFECT IN HEMOPHILIA AND IN JAUNDICE. , 1935 .

[56]  A. Quick,et al.  A Study of the Coagulation Defect in Hemophilia and in Jaundice , 1935, Thrombosis and Haemostasis.

[57]  A. M. Nussbrecher,et al.  HEREDITARY PSEUDO-HAEMOPHILIA , 1935 .

[58]  R. Macfarlane,et al.  THE HÆMOSTATIC POSSIBILITIES OF SNAKE-VENOM , 1934 .

[59]  G. Minot A FAMILIAL HEMORRHAGIC CONDITION ASSOCIATED WITH PROLONGATION OF THE BLEEDING TIME , 1928 .

[60]  C. Wiggers OBSERVATIONS ON THE "EFFECTIVE" PRESSURE IN THE RIGHT AND LEFT AURICLES , 1914 .

[61]  T. Addis The pathogenesis of hereditary hæmophilia , 1911 .

[62]  P. Morawitz,et al.  Die Chemie der Blutgerinnung , 1905 .

[63]  E. Francis A Case of Haemophilia Treated with Adrenalin Chloride , 1904, British medical journal.

[64]  A. Wright On a Method of Determining the Condition of Blood Coagulability for Clinical and Experimental Purposes, and on the Effect of the Administration of Calcium Salts in Hæmophilia and Actual or Threatened Hæmorrhage , 1893, British medical journal.

[65]  A. Wright Upon a New Styptic, and upon the Possibility of Increasing the Coagulability of the Blood in the Vessels in Cases of Hæmophilia and Aneurysm and Internal Hæmorrhage , 1891, British medical journal.

[66]  F. Treves LONDON HOSPITAL. A CASE OF HqMOPHILIA ; PEDIGREE THROUGH FIVE GENERATIONS , 1886 .

[67]  S. Wilks,et al.  Report of a Case of Pyæmia from Valvular Disease of the Heart: Death* , 1868, British medical journal.

[68]  S. Lane HÆMORRHAGIC DIATHESIS.: SUCCESSFUL TRANSFUSION OF BLOOD , 1840 .

[69]  F.,et al.  SOME PROPERTIES OF A SUBSTANCE OBTAINED FROM NORMALHUMANPLASMAEFFECTIVE IN ACCELERATING THE COAGULATION OF HEMOPHILIC BLOOD , 2022 .