[Skip to Navigation]
September 1964

Antihemophilic Globulin Deficiency: In a Chromosomal Female

Author Affiliations

Jeanne M. Lusher, MD, Tulane University, School of Medicine, Department of Pediatrics, 1430 Tulane Ave, New Orleans, La 70112.; From the Department of Pediatrics and the Department of Medicine, Tulane University School of Medicine and Charity Hospital of Louisiana. Supported in part by United States Public Health Service grant 2A 5309.

Am J Dis Child. 1964;108(3):309-314. doi:10.1001/archpedi.1964.02090010311014

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