Hemophilia
Hemophilia is one of the most common hereditary bleeding disorders. In individuals with hemophilia, there is a deficiency in two of the proteins called clotting factors, factor VIII and factor IX. As a result, blood cannot clot normally as it should. Consequently, individuals with hemophilia may experience easier and more frequent bleeding. This hereditary disease has two different types: hemophilia A and hemophilia B. In this condition, particularly, bleeding into joints and muscles, known as hematomas, is common. For those curious about "What is hemophilia?", "What are the symptoms, diagnosis, and treatment methods of hemophilia?", detailed information about the topic is provided in the continuation of the text.
What is Hemophilia?
Hemophilia is a hereditary bleeding disorder that occurs approximately in 1 out of 10,000 births worldwide. One of the most important complications of this hereditary disease, arising from a problem in the blood clotting mechanism, is the inability to stop bleeding. Therefore, it is necessary for hemophilia, a rare disease, to be monitored by specialists throughout life. For those wondering 'What is hemophilia?', the answer can be briefly summarized as a blood disorder that occurs due to the deficiency of certain proteins involved in the blood clotting mechanism.
Hemophilia has different types such as hemophilia A, B, and C. Among these, hemophilia A and B are the most commonly encountered types of hemophilia. Hemophilia A, which occurs due to a deficiency in factor VIII, is the most common type of hemophilia. According to research, hemophilia A is found in approximately 1 in 100,000 individuals. Hemophilia B, which occurs due to a deficiency in clotting factor IX, is rarer compared to hemophilia A, affecting approximately 3 out of 100,000 individuals.
What are the Causes of Hemophilia?
The production of proteins involved in the blood clotting mechanism is controlled by genes. Any mutation or alteration in these genes can lead to a decrease in the production of proteins known as clotting factors or the complete absence of protein production. Genes involved in the clotting mechanism are located on the X chromosome. While males have only one copy (XY) of the genes located on the X chromosome, females have two copies (XX). Therefore, the risk of hemophilia in males is higher compared to females. Since it is a disease transmitted through genes, the main cause of hemophilia is genetic factors.
Additionally, hemophilia can rarely occur later in life. Hemophilia that is not present at birth and develops later is called acquired hemophilia. The main cause of acquired hemophilia is the immune system of the individual recognizing factor VIII or factor IX proteins as foreign and attacking them. However, rarely, health problems such as cancer or multiple sclerosis can also cause hemophilia.
Genetic Causes and Transmission
Although there are exceptions, hemophilia is generally known as a disease transmitted genetically. It has two main types, Hemophilia A and Hemophilia B, both associated with deficiencies or low levels of specific clotting factors located on the X chromosome.
Relationship Between Hemophilia and Color Blindness
Color blindness is also a hereditary disease that can be transmitted just like hemophilia. However, apart from this common feature, there is no connection between hemophilia and color blindness.
What are the Symptoms of Hemophilia?
Symptoms of hematomas are classified into three different classes: mild, moderate, and severe. The main criterion in this classification is the amount of clotting protein present in the blood. Under normal conditions, there are approximately 50-150 units of factor VIII and factor IX per 100 milliliters of blood. Having between 5-30% clotting protein is classified as mild hemophilia, 1-5% as moderate hemophilia, and less than 1% as severe hemophilia. Abnormal bleeding can occur even in mild cases of hemophilia, although these bleeds typically occur after a surgical operation or a major injury. In moderate hemophilia, bleeding may continue for a prolonged period after injuries. Patients with severe hemophilia tend to experience symptoms such as sudden nosebleeds more frequently.
The most significant symptom of hemophilia is bleeding disorder. For example, menstrual bleeding in women with hemophilia may last longer and be more severe. The main symptoms of hemophilia are as follows:
Physical Symptoms
Patients with hemophilia may experience prolonged bleeding even with minor injuries or daily activities. This condition can lead to bruising under the skin and internal joint bleeding.
Bleeding and Bruising Conditions
As previously mentioned, the most prominent feature of hemophilia is bleeding disorders. This can lead to much longer and more severe menstrual periods. Patients with hemophilia may experience prolonged bleeding even with minor injuries or daily activities. This condition can lead to bruising under the skin and internal joint bleeding. In natural deliveries, hemophilia may not be immediately apparent right after birth. However, in difficult births causing trauma to the baby, bruising and/or intracranial bleeding may occur immediately after birth. The severity of the symptoms can vary from person to person depending on how deficient the clotting factor in the blood is.
- Inability to stop bleeding,
- Unexplained bruising, especially in joints and muscles,
- Large bruises appearing after minor impacts,
- Sudden nosebleeds,
- Joint pain due to internal bleeding,
- Rarely, brain hemorrhage.
In addition to the above, hemophilia can also manifest with certain symptoms in the early years of life. The main symptoms seen in babies with hemophilia include:
- Prolonged and uncontrollable bleeding after circumcision,
- Formation of lumps on the heads of babies after head injuries,
- Restlessness and crying spells in babies due to internal joint bleeding,
- Hematoma (collection of blood) in various parts of the baby's body.
Other Common Symptoms
Hemophilia may not be limited to just bleeding and bruising. This genetic disorder can sometimes be associated with more general symptoms such as loss of appetite, weakness, and headaches. The symptoms experienced by hemophilia patients generally vary depending on the type and severity of the disease.
How is Hemophilia Diagnosed?
Severe cases of hemophilia can often be diagnosed within the first year of life due to symptoms such as bruising, intracranial bleeding, or uncontrollable bleeding after circumcision, while mild or moderate hemophilia may be noticed in later years. Patients who present with suspected hemophilia are first thoroughly examined by a hematologist, a specialist in the field. At this stage, specialists typically check for any bruising on the patient's body. Additionally, since hemophilia is an inherited condition, obtaining the medical history of the individual and their family is crucial during the diagnosis process. Nowadays, there are various tests used in the diagnosis of hemophilia. Some of these tests include:
- Complete blood count (CBC) test to measure the quantity of blood cells such as white blood cells and red blood cells in the blood,
- Prothrombin time (PT) test to measure how long it takes for the blood to clot,
- Activated partial thromboplastin time (APTT) test, another test used to measure the clotting time of blood,
- Tests to measure clotting factors VIII and IX in the blood.
How is Hemophilia Treated?
In the treatment of severe hemophilia, the primary goal of specialists is to replace the deficient clotting factors in the patient through intravenous administration. Factors derived from human blood or those produced in laboratory settings can be administered to the patient. This treatment method can be used in cases of uncontrollable bleeding as well as to prevent bleeding from occurring. Additionally, in cases of mild hemophilia, doctors may prescribe medications that can assist in the secretion of proteins and enzymes involved in blood clotting. It is essential for hemophilia patients to be monitored and managed by a specialist doctor throughout their lifetime.
Frequently Asked Questions
Although rare, hemophilia is a significant bleeding disorder that can significantly affect individuals' quality of life and pose a threat to life when it occurs. Below are some frequently asked questions about hemophilia.
What is hemophilia, and how does it occur?
Hemophilia is a genetic disorder that affects the blood's clotting ability. It is characterized by uncontrolled bleeding due to the deficiency or low levels of clotting factors in the body. Hemophilia typically arises from mutations in the relevant genes on the X chromosome and can be genetically transmitted within families.
What lifestyle is recommended for hemophilia patients?
The recommended lifestyle for hemophilia patients includes regular monitoring by their doctors. Care should be taken during activities to avoid injuries, and clotting factor infusions should be administered regularly. When managed appropriately, physical activities can support overall health, but each case should be evaluated based on the individual's health status.
Is hemophilia hereditary?
Individuals with hemophilia or a family history of hemophilia often ask whether hemophilia is hereditary. Hemophilia is commonly a hereditary condition resulting from a mutation or alteration on the X chromosome. However, in rare cases, hemophilia can develop later in life (acquired hemophilia).
In which vitamin deficiency is hemophilia seen?
The question "In which vitamin deficiency is hemophilia seen?" is frequently asked, but vitamin deficiency does not play a role in the development of hemophilia. Hemophilia occurs due to the absence of sufficient levels of clotting factors VIII and IV in the blood.
How long do hemophilia patients live?
Providing a definitive answer to the question "How long do hemophilia patients live?" is challenging. However, in patients diagnosed early and treated lifelong, the survival rate is high.
How is hemophilia transmitted?
Hemophilia is typically a genetically inherited disease. Therefore, hemophilia patients often wonder, "How is hemophilia transmitted?" Babies can be born with hemophilia if there is a disorder affecting clotting on the X chromosome inherited from the mother and/or father.
What should hemophilia patients avoid eating?
The answer often provided by experts to the question "What should hemophilia patients avoid eating?" is to avoid foods that increase the risk of bleeding. Some studies suggest that foods and supplements such as ginger, garlic, cherries, and fish oil supplements may increase the risk of bleeding.
Does hemophilia kill?
As hemophilia is characterized by prolonged abnormal bleeding, untreated cases can lead to adverse outcomes. For example, life-threatening symptoms like brain hemorrhage can occur in uncontrolled severe hemophilia cases.
Hemophilia is a hereditary disease that can be managed with early diagnosis. At Liv Hospital, various health issues, including hemophilia, are diagnosed and treated by expert physicians. Starting treatment as early as possible can help improve the patient's quality of life. Therefore, don't hesitate to schedule an appointment with a specialist doctor for check-ups without delay.
* Contents of this page is for informational purposes only. Please consult your doctor for diagnosis and treatment. The content of this page does not include information on medicinal health care at Liv Hospital .
