Congenital Deficiency of Factor XIII in an Indian Kindred

Deficiency of factor XIII was detected in an 18-year-old man. During a study of 64 members of his kindred, 2 additional cases were documented. In these 3 cases the onset of symptoms and the clinical course varied considerably. The proband had no abnormal bleeding till the age of 8 years. His 11-year-old sister bled from the umbilical stump on the fifth day, but has had no abnormal bleeding since then. The parents of these siblings are second cousins. The third patient, 10 months of age, also bled from the umbilical stump on the fifth day and she has continued to have significant haemorrhagic problems. Her parents are first cousins. In each of the two affected families, one other daughter had died following haemorrhage from the umbilical stump. The pattern of inheritance is consistent with an autosomal recessive mode of transmission.