How Hemophilia Affects The Body – By Carmen Ochoa Marieta M.D., Ph.D., M.Sc. (gynecologist), Sarai Arrones BSc, MSc (embryologist), Zaira Salvador B.Sc., M.Sc. (Embryologist) and Romina Packan (Staff).
Hemophilia is a genetic disorder that affects blood clotting. Hemophiliacs do not stand well with their blood and for this reason they can suffer more or less heavy bleeding.
How Hemophilia Affects The Body
People with hemophilia are mostly men because it is an inherited recessive disorder linked to the X chromosome.
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In this article, we will discuss the most important aspects of hemophilia, as well as reproductive options that exist to prevent it.
Below is an index with the 7 points that we will elaborate on in this article.
This blood change is due to the lack of coagulation factors, proteins essential to block blood vessel injuries next to platelets and thereby prevent bleeding.
, is the most common type of hemophilia. It occurs in approximately 80% of people suffering from hemophilia. Hemophilia B is less common, and only 20% of hemophiliacs present with type B.
Hemophilia A Vs B: Symptoms And Treatments
The vast majority of people affected by hemophilia are men, as it is a recessive genetic disease linked to the X chromosome, which means that women are carriers in most cases.
However, there is a type of hemophilia that is not linked to the X chromosome (hemophilia type C), so some women can be hemophiliacs.
Occurs when there is a deficiency of coagulation factor VIII. This is the most common type of hemophilia.
Occurs when there is a lack of coagulation factor XI, which is encoded on chromosome 4. This means that this type of hemophilia is not sexually linked and affects men and women equally.
Hemophilia: Impact On Daily Living And Patient Education
For this reason, it is especially important to detect women with hemophilia to prevent its transmission to their children.
As we have already said, hemophilia is a hereditary disease, that is, it passes from parents to children through genes.
In this section, we will explain the type of inheritance associated with hemophilia A and B: recessive inheritance linked to the X chromosome.
The X chromosome is a sex chromosome present in both males and females. However, females have two copies of this chromosome (XX), while males have one copy of the X chromosome and one copy of the Y chromosome (XY) to define their sex.
Ways To Take Lifestyle Precautions For Hemophilia
Since this is a recessive genetic disease, it will be necessary for a woman to inherit both sex chromosomes and the mutation caused by hemophilia from her parents who have the disease. If only one X chromosome is found with the mutation, the woman is an asymptomatic carrier.
Therefore, men manifest hemophilia in a greater proportion than women, who are mainly carriers of the mutation. However, some women with hemophilia have mild symptoms.
The main symptoms of hemophilia are prolonged, relentless bleeding that occurs spontaneously and bleeding that is difficult to stop after trauma.
If bleeding occurs from a natural hole in the body (nose, mouth or ear) or from a superficial wound.
Hemophilia: Causes, Risk And Treatment
Is bleeding that occurs in the body, especially in muscles and joints (knees, elbows, ankles, etc.). Such bleeding can be severe and cause internal organ damage and arthritis.
Depending on the amount of coagulation factors missing from the blood, the following degrees of severity are determined:
Between 5% and 40% of normal clotting factors. These people do not have serious bleeding problems, they only have bleeding after surgery or a serious injury.
Between 1% and 5% of normal clotting factors. These people usually bleed once a month and especially they may have heavy bleeding after surgery, serious injury or any dental procedure.
Myths And Facts Related To Haemophilia And Bleeding Disorders
Less than 1% normal clotting factor. These people often have bleeding from muscles and joints. In addition, such bleeding can occur spontaneously, without reason.
If a man or woman with hemophilia decides to have children, it is important to be well informed about the probability of passing this disease on to their children and to receive genetic counseling before pregnancy.
Preimplantation genetic diagnosis (PGD) is the best option if the parents have some genetic changes and want to avoid transferring them to their children in the future.
This diagnosis consists of analyzing the embryos genetically during the in vitro fertilization (IVF) treatment, in order to transfer to the woman’s uterus only healthy embryos that do not have the disease, in this case hemophilia.
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To do a PGD, one should undertake IVF as the primary treatment. If you are looking for a clinic to start, we recommend that you generate your individual fertility report now. It is a useful, simple tool that provides you with a list of clinics that have passed our strict selection process in just 3 steps. You will receive an email in your inbox with a report with tips and recommendations to get started.
If you want to know more about this method, you can read more here: What is preimplantation genetic diagnosis?
PGD also allows us to know the sex of the embryos before they are transferred to the uterus.
In many countries, gender selection is illegal. However, it is allowed in cases where it is intended to prevent the birth of children with serious diseases. This is what is known as a
The Use Of Vein Finders In The Therapy Of Haemophilia
For example, a couple can choose the sex of their baby to avoid hemophilia in the following cases:
Can only have healthy sons because all daughters would be carriers and the disease would continue in future generations.
In cases where parents do not want to risk having sick children or people with hemophilia, they have options for other assisted reproductive treatments such as gamete (egg or sperm) donation and embryo adoption.
Pregnant women who have a child with hemophilia because of their family history and who did not have PGD may have other prenatal diagnostic tests such as the following:
Factor Xi Deficiency (hemophilia C)
Is a cell-free fetal DNA test that allows us to know the sex of the baby, but does not detect specific hemophilia mutations. Therefore, it will be useful in cases where the sex of the baby is decisive for suffering or not suffering from the disease.
Refer to choral biopsy and amniocentesis test. In these cases, it is possible to study fetal DNA mutations and find out if the baby is healthy, a carrier or sick.
If an unfavorable result indicates that the fetus has hemophilia, the woman can decide to terminate the pregnancy until the 22nd week.
Yes, women with hemophilia can occur if the father is a hemophiliac and the mother has the same mutation. However, this possibility is very unlikely and usually not considered.
What Is Hemophilia
Yes, but acquired hemophilia is a very rare disease. It occurs when the affected person begins to generate antibodies that attack blood clotting factors and prevent them from doing their job.
The exact cause of this disease is unknown, although it may be related to autoimmune diseases, certain drugs or tumors.
Signs and symptoms of hemophilia are constant bleeding due to lack of blood clotting. In particular, we will emphasize the following:
If you are interested, you can learn more about genetic diseases and inheritance patterns in this post: What genetic or chromosomal diseases can PGD test for?
Advances And Innovations In Haemophilia Treatment
We talked about sex selection to prevent genetic diseases in offspring. If you want to read more about this topic, we recommend you read this article: What methods are used to choose the sex of babies?
Chen M, Chang SP, Ma GC, Lin WH, Chen HF, Chen SU, Tsai HD, Tsai FP, Shen MC. Preimplantation genetic diagnosis of 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, Borrego S, Antiñolo G. Technical and clinical overview. Biomed Res Int. 2015; 2015:406096.
Fernandez-Arias I, Kim HK. Factor VIII delivery devices in hemophilia A. Barriers and drivers to treatment adherence. Farm Hosp. 2016 Nov 1;40(n06):579-603.
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Morales-Machín A, Borjas-Fajardo L, Zabala W, Alvarez F, Fernández E, Zambrano M, Delgado W, Hernández ML, Solis-Añez E, Chacín JA. Indirect prenatal molecular diagnosis of hemophilia A and B. Invest Clin. 2008 Sep;49(3):289-97.
User FAQ: ‘Can women have hemophilia or do they just carry it?’, ‘Is there adult hemophilia?’ and ‘What are the symptoms and clinical manifestations of hemophilia?’.
Bachelor of Medicine at the University of the Basque Country. Doctorate in Medicine and Surgery at the University of Murcia. He is currently the director of the Assisted Reproduction Unit of the Centro de Estudios para la Reproducción (CER SANTANDER) in Santander, Spain, as well as the director of the Diagnostic Unit of Human Assisted Reproduction in Bilbao. More information about Carmen Ochoa Marieta
Bachelor of Biomedicine and Biomedical Sciences at the University of Valencia (UV). The Master in Biotechnology in Human Assisted Reproduction from the UV and the Valencian Sterility Institute (IVI). Specialist training course in gametes, embryos, and animal tissue cryopreservation. Embryologists specialize in the field of Assisted Reproduction. More information
Hemophilia: Coagulation And How Blood Clots
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