What Is The Main Cause Of Hemophilia – Carmen Ochoa Marita, MD, MSc. (Gynecology), Sarai Aarons BSc, MSc (Embryologist), Zaira Salvador BSc, MSc. (Embryologist) and Romina Pacan (Staff).
Hemophilia is a genetic disease that affects blood clotting. People with hemophilia don’t clot their blood well, which causes them to bleed more or less.
What Is The Main Cause Of Hemophilia
People with hemophilia are predominantly male because it is a recessive genetic disorder linked to the X chromosome.
Hemophilia + How To Manage Hemophilia Symptoms
In this article, we will discuss the most important aspects of hemophilia, as well as reproductive options for prevention.
Below is a list of the 7 points we will cover in this article.
These changes in the blood are caused by the lack of coagulation, the necessary proteins that close the damaged blood vessels close to platelets, to prevent bleeding.
, the most common type of bleeding. It occurs in 80% of hemophilia. Hemophilia B is rare, but only 20% of people with hemophilia have B.
Acquired Hemophilia A: A Current Review Of Autoantibody Disease.
Most people with hemophilia are men because it is a genetic disease linked to the X-chromosome, which means that women will be carriers in most cases.
However, there is a type of hemophilia that is not linked to the X chromosome (hemophilia C), so some women may have hemophilia.
Arthritis occurs when factor VIII is depleted. This is the most common type of bleeding.
When there is a deficiency of clotting factor XI on chromosome 4. This means that this type of hemophilia is gender neutral and affects men and women equally.
Gene Therapy Used To Treat Hemophilia
For this reason, diagnosis of women with hemophilia is especially important to prevent transmission to children.
As we have already said, anemia is a hereditary disease, which is passed from parents to children through genes.
In this section, we will describe the inheritance patterns associated with hemophilia A and B: X-linked recessive inheritance.
The X chromosome is the sex chromosome present in both males and females. However, women have two copies of this chromosome (XX), while men have one copy of the X chromosome and one copy of the Y (XY) chromosome to determine their gender.
Hemophilia A: Symptoms, Treatment, And More
Because it is a genetic disease, a woman must inherit both sex chromosomes from her parents, the mutation that causes bleeding. If there is only one chromosome with the mutation, the woman will be an asymptomatic carrier.
Because of this, hemophilia occurs at a higher rate in men than in women, who are often carriers of the mutation. However, there are women with hemophilia who have mild symptoms.
The main symptom of hemophilia is persistent, spontaneous bleeding that is difficult to stop after injury.
Bleeding occurs from natural openings in the body (nose, mouth, ears) or superficial wounds.
Hemophilia: Symptoms, Causes, Diagnosis And Treatments
Bleeding inside the body, especially in the muscles and joints (knees, elbows, ankles, etc.). These bleeds can be severe and cause internal organ damage and arthritis.
Depending on the lack of blood clotting factors, the following severity levels are determined.
5-40% of normal blood clotting issues. These people do not have serious bleeding problems and only bleed after surgery or a serious injury.
1% and 5% are normal blood clotting factors. These people usually bleed once a month, especially after surgery, serious injury, or dental surgery.
Hemophilia Life Expectancy And Prognosis
Less than 1% of normal blood clotting factor. These people often have bleeding in the muscles and joints. In addition, this bleeding occurs spontaneously for no reason.
If a man or woman with hemophilia is planning to have a child, it is important to be well informed about the possibility of passing the disease on to your child and to seek genetic counseling before becoming pregnant.
Prenatal genetic diagnosis (PGD) is the best option for parents with certain genetic mutations who want to avoid passing them on to their future children.
This diagnostic method uses genetic analysis of embryos to ensure that only healthy embryos leave the woman’s womb without disease, in this case hemophilia.
Advances And Innovations In Haemophilia Treatment
PGD, IVF should be used as primary treatment. If you are looking for a clinic to start with, I recommend that you get a birth certificate now. It is a useful and simple tool, and in just 3 steps, you will be presented with a list of clinics that have passed our strict selection process. You’ll receive an email in the newsletter with tips and tricks to get you started
If you want to know more about this process, you can read here: What is prenatal genetic diagnosis?
PGD makes it possible to determine the sex of the fetus before it is transferred to the uterus.
Gender selection is illegal in many countries. However, it is allowed in cases where the aim is to prevent the birth of a very sick child. known as
Hemophilia, Causes, Symptoms, Types, And Treatments
For example, a couple can choose the gender of their child to avoid hemophilia if:
All girls can be carriers and only healthy boys will be born, as the disease will be passed on to the next generation.
If the expectant parents do not want to risk having a sick child or being a hemophilia carrier, they can choose other assisted reproductive treatments, such as gamete (egg or sperm) donation or embryo adoption.
Pregnant women with a family history of hemophilia who do not undergo PGD may undergo other prenatal tests, such as:
Haemophilia A And Haemophilia B: Molecular Insights
It’s a cell-free fetal DNA test that can tell the baby’s gender, but it doesn’t detect hemophilia-specific mutations. Therefore, it is useful in cases where the sex of the child depends on whether the child is sick or not.
Refers to chorionic biopsy and amniocentesis. In this case, it is possible to study the changes in the DNA of the fetus and find out whether the child is healthy, like or sick.
If the negative results show that the fetus has bleeding, the woman who takes the bleeding can decide to terminate the pregnancy until the 22nd week.
Yes, females can develop hemophilia if their father has hemophilia and their mother has the same mutation. However, this possibility is so small that it is often not considered.
What Is Hemophilia? Causes, Symptoms And Pregnancy
Yes, but acquired hemophilia is a very rare condition. It happens when the affected person starts making antibodies that attack the clotting factors and prevent them from working.
The exact cause of this condition is unknown, but it may be related to autoimmune diseases, certain medications, or tumors.
Symptoms of hemophilia are always bleeding due to lack of blood clotting. In particular, I will focus on the following.
If you are interested, you can find more about genetic diseases and heredity in the following article: What genetic or chromosomal diseases can be diagnosed with PGD?
Factor I Deficiency (fibrinogen Deficiency)
We talk about choosing sex to avoid passing genetic diseases to our offspring. If you want to continue reading this topic, I recommend you to read the following article: What are the methods of choosing the sex of a child?
Chen M, Chan SP, Ma GS, Lin WH, Chen HF, Chen SU, Cai HD, Cai FP, Shen MC. Hemophilia A. Thromb J. 2016 Oct 4;14(Suppl 1):33.
Fernández RM, Peciña A, Sánchez B, Lozano-Arana MD, García-Lozano JC, Pérez-Garrido R, Núñez R. : clinical review.. Biomed Res Int. 2015; 2015:406096.
Fernandez-Arias I, Kim HK. Factor VIII delivery devices in hemophilia A. Factors that interfere with treatment adherence. Beer Hospital. 2016 Nov 1; 40 (n06): 579-603.
Hemophilia Infographics Poster Royalty Free Vector Image
Morales-Machin A, Borjas-Fajardo L, Zabala V, Alvarez F, Fernandez E, Zambrano M, Delgado V, Hernandez ML, Solis-Añez E, Chacin JA. Random prenatal red blood cell screening for hemophilia A and B. Make a clean investment. 2008 Sep;49(3):289-97.
Frequently asked questions from users: ‘Can women get hemophilia or are they carriers?’, ‘What about heavy bleeding?’ and ‘What are the signs and symptoms of hemophilia?’.
Bachelor of Medicine from the University of the Basque Country. Doctor of Medicine and Surgery, University of Murcia. Currently, he is the assisted reproduction director of the Centro de Estudios para la Reproducción (CER SANTANDER) in Santander, Spain, and the director of the assisted reproduction department in Bilbao. More about Carmen Ochoa Marietta
In Biomedicine and Bachelor of Biomedical Sciences from the University of Valencia (UV). Master’s Degree in Human Assisted Reproductive Biotechnology with UV Light, Valence Infertility Institute (IVI). Specialist training in the conservation of gametes, embryos and animal cells. Embryologist specializing in assisted reproduction. more information
Liver Directed Lentiviral Gene Therapy Corrects Hemophilia A Mice And Achieves Normal Range Factor Viii Activity In Non Human Primates
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