Haemophilia



Ms. Krutika Naik
Teaching Assistant

Introduction

The name of haemophilia is taken from Greek language haima means blood and philia means friend. Haemophilia is an inherited medical condition in which blood clotting/coagulation process is slow or the blood does not clot properly. It is also called bleeding disorder. Clotting factor means lack of protein. One coagulation factor is missing or level of that factor is low in haemophilia. Coagulation factor works with platelets to stop bleeding at the site of an injury, but people with haemophilia tend to bleed for longer periods of time after an injury. Also they are susceptible to internal bleeding.


[Clotting Process]

Types of Haemophilia

There are three types of haemophilia, Type A, Type B and Type C.

Haemophilia A

is characterized by low level of clotting factor VIII that is produced inside the liver. It is also called Classic haemophilia. Haemophilia A is a recessive X-linked genetic disorder. 60% of haemophiliacs are affected by this type of haemophilia. People with mild haemophilia A are called Von Willebrands disease.

Von Willebrands disease

This condition is very similar to haemophilia A. It can misguide in haemophilia testing. It is not as serious as haemophilia itself.

Haemophilia B

is characterized by low level of clotting factor IX that is formed inside the liver, but process begins at a genetic level. If that gene does not work adequately, haemophilia B is triggered. It is also called Christmas disease. Haemophilia B is a recessive X-linked genetic disorder.

Haemophilia C

is not completely recessive. Haemophilia C is an autosomal (i.e. not X-linked) genetic disorder and characterized by lack of functional clotting factor XI – formation genes. This is the most severe forms of haemophilia.

History

In the history of haemophilia, the Jews were first person who has recognized that if women had two sons that died from circumcision. Her third son would not be required to be circumcised. This shows that they recognized that women carried the haemophilia gene and passed carrier status down to their sons.

Queen Victoria was the first lady who carried the haemophilia gene and passed it down to her daughters.

Afterwards this disease was passed in several generations of royal families of the nations of Europe. That’s why this haemophilia is known as royal disease.

Signs and Symptoms

Variation in the severity of haemophilia symptoms depending on the level of coagulation factor. It can be mild, moderate, or severe.

Severe haemophilia

Individual genes with less than 1% active coagulation factor are classified as a severe haemophilia. People are suffering from more frequent bleeds and internal bleeding.

Moderate haemophilia

Individual genes with 1-5% active coagulation factor are classified as a moderate haemophilia. People are suffering from minor symptoms except after surgery, internal bleeding or may not have any signs or symptoms at a birth time.

Mild haemophilia

Individual genes with 5-40% of normal levels of active coagulation factor are classified as a mild haemophilia. First sign of mild haemophilia is heavy bleeding from a dental procedure, an accident, or surgery.

There are some common sign of haemophilia:

  • Bleeding can happen anytime and anywhere in body.
  • Bleeding can be seen clearly sometimes or sometimes it cannot.
  • Bleeding can happen after surgery.

Causes

Genes are found on chromosomes. There are two types of chromosomes. One is called X and another is Y. According to those chromosomes, we can decide a person’s sex. Females are born with two X-chromosomes. Males are born with one X-chromosome and one Y-chromosome. The haemophilia gene is carried on X-chromosome.

A man has haemophilia and he passes haemophilia gene to all of his daughters, but not to his sons. So his daughters are called carriers because they carry the haemophilia gene from their father.

If a male receives single X-chromosome from his mother, he is having haemophilia. If female receives her single X-chromosome from her mother, she will be a carrier like her mother. Below figure shows exact idea about the haemophiliacs.

Treetment

  • Injecting the missing coagulation factor into a vein. Coagulation factor cannot be given by mouth. Coagulation factor can be found in various products, such as cryoprecipitate and factor concentrate. People with mild haemophilia A can be treated by a medicine called desmopressin or DDAVP. It is given by injection into a vein, injection under the skin, or nasal spray.
  • Pain medication.
  • Anti-inflammatory medication to reduce swelling.
  • A different dose or schedule of factor replacement.
  • Repeated doses of factor VIII or IX.

Reference:

  • http://www.wfh.org/en/pdf/english.pdf
  • http://blood.emedtv.com/hemophilia/causes-of-hemophilia.html
  • http://www.medicalnewstoday.com/articles/154880.php
  • http://www.hemophilia-information.com/history-of-hemophilia.html
  • http://en.wikipedia.org/wiki/Haemophilia
  • http://www.hemophiliaa.info/hemophilia-types-and-hemophilia-testing_8.html