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Antihemophilic Globulin Deficiency: In a Chromosomal Female

Antihemophilic Globulin Deficiency: In a Chromosomal Female Abstract Abnormal bleeding tendency associated with pure antihemophilic globulin (AHG) deficiency is rare in females. To review this subject, one is limited to the past ten years—since the advent of the thromboplastin generation test by Biggs and Douglas.1 If one attempts to evaluate reports of "hemophilia" in females prior to 1953 one can only conclude that there was a first-stage clotting defect which might have been due to a deficiency of any of the first-stage factors. Since 1953, however, there have been a few case reports of excessive bleeding associated with low AHG levels in females from hemophilic families. Nilsson described the interesting case of a white child with classic hemophilia A and family history of AHG deficiency in the maternal line. Although the child was thought to be a female from all external appearances, tissue cultures of skin specimens and cytological studies showed 46 chromosomes with an References 1. Biggs, R., and Douglas, A. S.: Thromboplastin Generation Test , J Clin Path 6:23, 1953.Crossref 2. Nilsson, I. M., et al: Haemophilia A in "Girl" With Male Sex Chromatin Pattern , Lancet 2:264, 1959.Crossref 3. Mellman, W. J., et al: Chromosomal Female With Hemophilia A , Blood 17:719, 1961. 4. McGovern, J. J., and Steinberg, A. G.: Antihemophilic Factor Deficiency in Female , J Lab Clin Med 51:386, 1958. 5. Taylor, K., and Biggs, R.: Mildly Affected Female Hemophiliac , Brit Med J 1:1494, 1957.Crossref 6. Haldane, J. B. S.: Mutation Rate of Gene for Haemophilia and Its Segregation Ratios in Males and Females , Ann Eugen 13:262, 1947.Crossref 7. Choremis, K. B., et al: Helv Paedist Acta 11:305, 1956. 8. Quick, A. J., and Hussey, C. V.: Hemophilic Condition in Girl , Lancet 1:294, 1958. 9. Braun, E. H., and Stollar, D. B.: Spontaneous Haemophilia in Female , Thromb Diath Haemorrh 4:369, 1960. 10. Quick, A. J.: Physiology and Pathology of Hemostasis , Philadelphia: Lea & Febiger, 1951. 11. Ham, T., ed.: Syllabus of Laboratory Examinations in Clinical Diagnosis , Cambridge, Mass: Harvard University Press, 1953. 12. Biggs, R., and Macfarlane, R. G.: Human Blood Coagulation and Its Disorders , ed 2, Springfield, Ill: Charles C Thomas Publisher, 1957, 421-423. 13. Egeberg, O.: Conditions Associated With Increased Blood Antihemophilic Factor (F. VIII) Activity, read before the International Conference on Hemophilia at Washington DC, Dec 1963. 14. Jones, J. H., et al: Combined Deficiency of Factor V and Factor VIII , Brit J Haemat 8:120, 1962.Crossref 15. Nilsson, I. M.; Blombach, M.; and Blombach, B.: von Willebrand's Disease in Sweden: Its Pathogenesis and Treatment , Acta Med Scand 164:263, 1959.Crossref 16. Cornu, P., et al: Transfusion Studies in von Willebrand's Diseases: Effect on Bleeding Time and Factor VIII , Brit J Haemat 9:189, 1963.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Diseases of Children American Medical Association

Antihemophilic Globulin Deficiency: In a Chromosomal Female

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References (10)

Publisher
American Medical Association
Copyright
Copyright © 1964 American Medical Association. All Rights Reserved.
ISSN
0002-922X
DOI
10.1001/archpedi.1964.02090010311014
Publisher site
See Article on Publisher Site

Abstract

Abstract Abnormal bleeding tendency associated with pure antihemophilic globulin (AHG) deficiency is rare in females. To review this subject, one is limited to the past ten years—since the advent of the thromboplastin generation test by Biggs and Douglas.1 If one attempts to evaluate reports of "hemophilia" in females prior to 1953 one can only conclude that there was a first-stage clotting defect which might have been due to a deficiency of any of the first-stage factors. Since 1953, however, there have been a few case reports of excessive bleeding associated with low AHG levels in females from hemophilic families. Nilsson described the interesting case of a white child with classic hemophilia A and family history of AHG deficiency in the maternal line. Although the child was thought to be a female from all external appearances, tissue cultures of skin specimens and cytological studies showed 46 chromosomes with an References 1. Biggs, R., and Douglas, A. S.: Thromboplastin Generation Test , J Clin Path 6:23, 1953.Crossref 2. Nilsson, I. M., et al: Haemophilia A in "Girl" With Male Sex Chromatin Pattern , Lancet 2:264, 1959.Crossref 3. Mellman, W. J., et al: Chromosomal Female With Hemophilia A , Blood 17:719, 1961. 4. McGovern, J. J., and Steinberg, A. G.: Antihemophilic Factor Deficiency in Female , J Lab Clin Med 51:386, 1958. 5. Taylor, K., and Biggs, R.: Mildly Affected Female Hemophiliac , Brit Med J 1:1494, 1957.Crossref 6. Haldane, J. B. S.: Mutation Rate of Gene for Haemophilia and Its Segregation Ratios in Males and Females , Ann Eugen 13:262, 1947.Crossref 7. Choremis, K. B., et al: Helv Paedist Acta 11:305, 1956. 8. Quick, A. J., and Hussey, C. V.: Hemophilic Condition in Girl , Lancet 1:294, 1958. 9. Braun, E. H., and Stollar, D. B.: Spontaneous Haemophilia in Female , Thromb Diath Haemorrh 4:369, 1960. 10. Quick, A. J.: Physiology and Pathology of Hemostasis , Philadelphia: Lea & Febiger, 1951. 11. Ham, T., ed.: Syllabus of Laboratory Examinations in Clinical Diagnosis , Cambridge, Mass: Harvard University Press, 1953. 12. Biggs, R., and Macfarlane, R. G.: Human Blood Coagulation and Its Disorders , ed 2, Springfield, Ill: Charles C Thomas Publisher, 1957, 421-423. 13. Egeberg, O.: Conditions Associated With Increased Blood Antihemophilic Factor (F. VIII) Activity, read before the International Conference on Hemophilia at Washington DC, Dec 1963. 14. Jones, J. H., et al: Combined Deficiency of Factor V and Factor VIII , Brit J Haemat 8:120, 1962.Crossref 15. Nilsson, I. M.; Blombach, M.; and Blombach, B.: von Willebrand's Disease in Sweden: Its Pathogenesis and Treatment , Acta Med Scand 164:263, 1959.Crossref 16. Cornu, P., et al: Transfusion Studies in von Willebrand's Diseases: Effect on Bleeding Time and Factor VIII , Brit J Haemat 9:189, 1963.Crossref

Journal

American Journal of Diseases of ChildrenAmerican Medical Association

Published: Sep 1, 1964

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