Doctor's Notes on Hemophilia
Hemophilia is an inherited (most often in males) bleeding disorder that has 2 forms (A and B); the blood will not clot normally and bleeding may occur spontaneously or following injury. Signs and symptoms can start early in toddlers that bleed or bruise excessively after falls. Some will have blood in the urine without infection. Other signs and symptoms may include joint pain and swelling with warmth, nose bleeds and hematomas in tissues. Severe symptoms may occur if bleeding occurs in the brain (intense headache, nausea, vomiting seizures, coma and death; bleeding into the spinal column may result in backache and paralysis.
The cause of both hemophilia A and B types are due to abnormalities in the X chromosome; so, males are primarily affected. Women have two X chromosomes so in most women, even if they have one defective X chromosome, the other X chromosome functions so they do not get the disease. However, they can have a 50% chance of passing the defective X chromosome to her sons and a 50% chance that her daughters will, like her mother, be a carrier of one defective X chromosome.
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Kasper, D.L., et al., eds. Harrison's Principles of Internal Medicine, 19th Ed. United States: McGraw-Hill Education, 2015.