Haemophilia A is a genetic condition that impairs blood clotting. The spelling of this word can be confusing due to the use of the less common "ae" combination. However, the correct spelling follows the standard British English convention of using "ae" in words derived from Greek. The IPA phonetic transcription of "haemophilia" is /hiːməˈfɪliə/. The "ae" combination is pronounced as a long "e" sound, hence the pronunciation of "haemophilia" sounds like "hee-muh-FIL-ee-uh".
Haemophilia A, also known as factor VIII deficiency, is a genetic disorder characterized by an abnormality in blood clotting. It falls under the category of haemophilia, which is a group of genetic bleeding disorders.
Haemophilia A specifically refers to a deficiency or absence of clotting factor VIII, a protein needed for blood clotting. This genetic condition is primarily inherited on the X chromosome and predominantly affects males. Females are usually carriers of the gene and have a lower risk of developing symptoms unless both X chromosomes are affected.
Individuals with haemophilia A experience prolonged bleeding or abnormal bleeding after injuries, surgeries, or spontaneous bleeding into joints, muscles, or other tissues. The severity of the disease varies, ranging from mild to severe, depending on the amount of clotting factor present in the blood.
Diagnosis of haemophilia A involves blood tests to measure the level of factor VIII in the blood. Genetic testing may also be conducted to confirm the presence of the genetic mutation responsible for the disorder.
Treatment for haemophilia A involves the replacement of the missing or deficient clotting factor through intravenous injections of synthetic factor VIII concentrates. This administration helps control and prevent bleeding episodes. In some cases, prophylactic treatment may be necessary to prevent bleeding complications.
In recent years, gene therapy has emerged as a potential treatment option for haemophilia A. It involves introducing healthy copies of the factor VIII gene into the patient's cells to restore normal clotting ability.
Managing haemophilia A requires close monitoring, education, and support from healthcare professionals to minimize the risk of bleeding complications and improve the individual's quality of life.
The word "Haemophilia A" is derived from two components: "haemophilia" and "A".
1. "Haemophilia": The term "haemophilia" comes from the Greek words "haima" meaning "blood" and "philia" meaning "love" or "affinity". The term was coined in 1828 by Friedrich Hopff, a German physician, to describe a hereditary bleeding disorder characterized by a deficiency in the blood's ability to clot properly.
2. "A": The letter "A" in "Haemophilia A" is used to differentiate between different types of haemophilia. Hemophilia A is the most common type and is caused by a deficiency in clotting factor VIII, whereas Hemophilia B is caused by a deficiency in clotting factor IX. The added letter "A" helps distinguish the two conditions.