Hemophilia is not one condition but multiple types

Hemophilia is not one, but a group of hereditary genetic disorders that prevent the body from controlling the necessary process of coagulation -- used in any instance in which a blood vessel is broken. The most common type, known as Hemophilia a, is a clotting factor deficiency that occurs more typically in males, at about 1/5,000-10,000 ("Hemophilia," 2006).

Historical Information -- Hemophilia appears to be a genetic disorder that originated at least as long as humans have been keeping records. We have evidence of maternal inheritance and "bleeding disorders" as early as 2nd century Babylonia. Throughout the course of Western history, too, we see royalty "inbred" with this genetic effect, probably the most famous being the young Tsarevitch, son of the last Russian Tsar, Nicholas II. The actual term, taken from the Greek, appeared in 1828, but it was not until 1939 that two Harvard-based doctors discovered an anti-hemophilic globulin (Handin, et.al., eds., 2003, Chapter 38).

Because royalty kept detailed genealogical records, and had the funds to seek medical treatment, much of our historical understanding of the disease comes from archives of the European royal families. Queen Victoria of England, for instance, passed the mutation on to her son Leopold, and through him, to the various royal families of Spain and Russia (Potts, 1999).

Even into the 1960s it was not known that certain conditions could be passed through the bloodstream, or exacerbated through uncontrolled transfusions. In fact, in the United States prior to 1985 there was no law that required the testing and screening of blood products. This was tragic for many hemophiliacs who, needing regular transfusions often were at extreme risk for contracting HIV and Hepatitis, for example. One estimate shows that more than half of U.S. citizens with hemophilia contracted HIV due only to the unsafe blood supply -- one of the most famous was Ryan White, a teenager who brought the controversy to the nation via media attention (Project Posner, 1995).

Clinical Features -- There are three types of Hemophilia, all genetically based: A, which includes 80% of the hemophiliac population, lacks clotting factor 8; B, includes about 20%, lacks clotting factor 9; and C., not completely recessive, just shows, in a very small number, increased bleeding and difficult with clotting Clinically, though, there are many different mutation occurrences that tend towards one of the three expressions above. In addition, the patient's severity is part of the classification; based on how much active clotting factor they have (Agaliotis, et.al., 2009).

Because there are numerous individuated types of hemophilia, there are a number of different minor symptoms that occur at different times as the child is growing. Often, until something major or tragic occurs, the family is unaware that their child has anything more serious "than a tendency to bruise." Mild forms of the disease can usually be dealt with except after surgery or trauma, but prolonged internal bleeding is common enough with moderate and severe forms of the disease that extra precautions are necessary. If not treated quickly and aggressively, for instance, these bleeds may lead to additional problems, permanent joint or internal damage, or, in some cases, death (Tondre and Lebeque, eds., 2009).

The challenge is often getting someone with moderate to severe hemophilia through childhood. In addition, at any stage more intense complications are really quite common, and although there are typically more clinics and hospitals for treatment, the lack of immediate attention to the following still claims lives each year:

Deeper, internal bleeding that goes beyond the surface and into the tissue, resulting in numbness, pain, or even loss of a limb.

Joint damage -- sometimes so serious it destroys that joint.

Transfusion infection from treatment.

Adverse reactions to clotting protocol.

Intracranial hemorrhage -- deep bleeding in the skull; if not treated causing brain damage and death (Ibid; Mayo Clinic, 2010).

Mode of Inheritance/Carrier Frequency -- and, as with many genetic disorders, it is possible for an individual to acquire it spontaneously through the process of mutation. This form of occurrence is actually more common that one would think up to one-third of new cases (Tondre and Lebeque). Occurrence of inherited hemophilia is slightly more likely in Caucasians (1.3%) as opposed to African-Americans (1.1%) and Hispanic (1.2%). Asian populations appear to inherit the gene far less likely, about 1/4 of that of Caucasians. However, modern demographics result in marriage between ethnic types far greater than previous, and statistics show a blending to about 1% of most populations (Soucie, et.al., 1998.)

Abnormality -- as a genetic occurrence, hemophilia infects about 1 in 5,000 male births, but carried in another 5,000 female births. The disease is recessive in females (carried on X-chromosome). Thus, a carrier female has a 50% chance of passing on the defective X chromosome to her daughter, while a male who is affected will always pass on that defect to progeny.

Screening/Testing -- Genetic testing based on family history is the primary mechanism for discovering hemophilia, but certain other tests help quantify the assurance:

Pronounced bleeding at circumcision or bruising at childbirth.

Severe bruising that does not heal well during childhood.

Blood tests for clotting.

aPTT (active partial thromboplastic time) measures clotting, and will be prolonged in those positive for hemophilia (Agaliotis).

Treatments for Disease -- at present, there is no actual treatment for the disease, just a regimen of treatments for the results (bleeding and bruising). There are some treatments that a sufferer can use without medical supervision, though:

Avoid aspirin and NSAID's -- they interfere with clotting.

Drink excess fluids to dilute blood in urine and flush kidneys.

Immediately ice and split bruised joints, this will prevent more serious consequences until seen by a medical professional.

Some herbal remedies are purported to strengthen blood vessels have been reported, but not clinically supported.