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A Chromosomal Female With Hemophilia A

1961; Elsevier BV; Volume: 17; Issue: 6 Linguagem: Inglês

10.1182/blood.v17.6.719.719

1528-0020

William J. Mellman, Irving J. Wolman, Harold A. Wurzel, Paul S. Moorhead, DONALD H. QUALLS,

Cancer-related gene regulation

Abstract An eight year old female is presented with hemophilia A with hemorrhagic symptoms since three months of age. Family studies revealed sex linked transmission through the maternal lineage. Chromosome analysis revealed a normal complement with two X chromosomes. Possible genetic mechanisms for this apparent homozygous hemophilic state derived from a carrier woman and normal father are presented.