Hemophilia (blood disorder)
What would you like to know?
- What is Hemophilia?
- What is Hemophilia - Visual
- Sports and Hemophilia
- Cole's Story
- Infusion Process
- Qs and As
- Changing Possibilities Video
- The Royal Disease
What is Hemophillia?
Hemophilia (heem-o-FILL-ee-ah) is a rare bleeding disorder in which the blood doesn't clot normally.
If you have hemophilia, you may bleed for a longer time than others after an injury. You also may bleed inside your body (internally), especially in your knees, ankles, and elbows. This bleeding can damage your organs and tissues and may be life threatening.
Overview
Hemophilia usually is inherited. "Inherited” means that the disorder is passed from parents to children through genes.
People born with hemophilia have little or no clotting factor. Clotting factor is a protein needed for normal blood clotting. There are several types of clotting factors. These proteins work with platelets (PLATE-lets) to help the blood clot.
Platelets are small blood cell fragments that form in the bone marrow—a sponge-like tissue in the bones. Platelets play a major role in blood clotting. When blood vessels are injured, clotting factors help platelets stick together to plug cuts and breaks on the vessels and stop bleeding.
The two main types of hemophilia are A and B. If you have hemophilia A, you're missing or have low levels of clotting factor VIII (8). About 9 out of 10 people who have hemophilia have type A. If you have hemophilia B, you're missing or have low levels of clotting factor IX (9).
Rarely, hemophilia can be acquired. "Acquired” means you aren't born with the disorder, but you develop it during your lifetime. This can happen if your body forms antibodies (proteins) that attack the clotting factors in your bloodstream. The antibodies can prevent the clotting factors from working.
This article focuses on inherited hemophilia.
Outlook
Hemophilia can be mild, moderate, or severe, depending on how much clotting factor is in your blood. About 7 out of 10 people who have hemophilia A have the severe form of the disorder.
People who don't have hemophilia have a factor VIII activity of 100 percent. People who have severe hemophilia A have a factor VIII activity of less than
1 percent.
1 percent.
Hemophilia usually occurs in males (with rare exceptions). About 1 in 5,000 males are born with hemophilia each year.
Answering of Questions..
1.
What
is the name of the disorder?
Hemophilia
2.
What
is the history behind the disorder?
References to excessive and
unexplained bleeding have been made since antiquity. And the first describe of
this disorder in the early 19th century, was that the transmission of
hemophilia was going from mothers to sons. In 1803, the Philadelphia physician
Dr. John Conrad Otto recognized that a particular bleeding condition was
hereditary and predominately affected males.
3.
Who
discovered it or/and who have done research on the disease?
Was first recognized by the Finnish physician Erik
von Willebrand in 1925.
The Philadelphia physician Dr. John Conrad Otto who did
researches on this disease.
4.
What
are main symptoms of this disease?
• Excessive bleeding
• Excessive bruising
• Easy bleeding
• Nose bleeds
• Abnormal menstrual
bleeding
5.
How
is the disorder diagnosed?
Bleeding disorders is a general term for a wide range of medical problems
that lead to poor blood clotting and continuous bleeding.
6.
How
does a person receive the disorder? Is it sex-linked? Is it a mutation? Is it
due to heredity?
The transmission of hemophilia is transferring from mothers to sons .
The Royal Family..
Haemophilia acquired the name the royal disease due to the high number of descendants of Queen Victoria afflicted by it. The first instance of haemophilia in the British Royal family occured on the birth of Prince Leopold on 7th April, 1853, Leopold was the fourth son and eighth child of Queen Victoria and Prince Albert of Saxe-Coburg-Gotha. No earlier occurence of the disease in the Royal family had been known, it is assumed that a mutation occured in the sperm of the Queen's father, Edward Augustus, Duke of Kent.
Haemophilia is an X-linked recessive disorder. The blood of a haemophiliac lacks the ability to coagulate, due to the fact that one or more of the plasma proteins required to form a clot is absent or reduced in their blood. The condition is passed on to males through females, who do not manifest the symptoms of the disease themselves. A recessive gene, it is carried on the sexual female chromosome X . Males possess XY chromosomes and females XX. Since females have two X chromosomes, they are more often than not carriers.
Prince Leopold (1 on chart) was described as delicate child who remained a constant source of anxiety to the Queen throughout his life, she consequently placed restrictions on him, which he chaffed at. He was later created Duke of Albany and married the German princess, Helena of Waldeck-Pyrmont. Leopold died in 1884 at the age of 31, in the south of France. He suffered a fit, the cause or the consequence of a fall on some stairs at Cannes and died the following morning.
Leopold's marriage to Helena of Waldeck produced two children, a daughter, Princess Alice of Albany (4), later to become Countess of Athlone, who was a further carrier of the disease and an unaffected son, born posthumously, Charles Edward, later Duke of Saxe-Coburg-Gotha. Alice was later to become Countess of Athlone and was to prove a carrier of haemophilia. She married Prince Alexander of Teck, the brother of Queen Mary, their son,Rupert of Teck (5) was also a haemophiliac.
During the First World War, when anti-German feeling was at its height, in conjunction with changing the name of the Royal House to Windsor, King George V changed that of the Tecks to Cambridge, (for their maternal ancestor, Adolphus, Duke of Cambridge, a son of George III). Alexander of Teck was made Earl of Athlone and Rupert granted the courtesy title of Viscount Trematon. After being involved in a car accident in France, he died of a brain hemorrhage.
Chart showing the descendants of Queen Victoria affected by haemophilia
Through two of the Queen's daughters, Alice (2) and Beatrice (3), both of whom were carriers, the disease was to be spread into many of the Royal Families of Europe.
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