A RARE CASE OF HAEMOPHILIA-A IN A GIRL

Evaluation of a 5 years old girl who presented with hemarthrosis, revealed Haemophilia-A. Many of her male family members had a bleeding disorder, presumably haemophilia-A. Her fathers factor VIII levels were 1. Analysis of the pedigree chart showed, she might have inherited the disease from her parents, father expressing the disease and the mother being a carrier. Females can manifest an X-linked recessive disease as a consequence of four different phenomena 1. Two mutant genes, homozygous or doubly heterozygous 2. One mutant gene plus extreme or non-random X chromosome inactivation (lyonisation), 3. Mutant gene plus XY genotype manifesting as a female and4. Chromosomal abnormality. Consanguineous marriages should be avoided in her family to prevent further dissemination of the disease. This case is presented for the rarity of Xlinked recessive disease manifesting in a female and to highlight the importance of genetic counseling in a family with a hereditary disease.