Hemophilia: A Genetic Disorder Assignment Sample

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Introduction of Hemophilia: A Genetic Disorder Assignment

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Hemophilia is a disorder, which affects the normal blood clotting system in the blood of a human body due to the lack of blood clotting proteins that is called the blood-clotting factor. It is a rare disorder in which if bleeding starts once due to any cut, injury, accident or any other reason the bleeding doesn't stop easily and keeps bleeding for a long period of time and a long time is required for the blood to clot rather than the time it takes the blood to clot properly. Hemophilia is caused due to the mutation in the gene, which is responsible for giving an active response that gives instruction to make the protein that is responsible for clotting the blood. Thus the mutation or the change of that particular gene prevents the function of the coagulate protein, that is the fibrin protein from working properly in the blood coagulation system.

Molecular genetics of the disease hemophilia

The hemophilia disorder is mainly due to a genetic mutation that is the mutation on a particular gene that is responsible for making the protein function properly which serves to stop bleeding with the normal bleeding time. Hemophilia is an inherited disorder, which affects the normal bleeding system affecting the normal clotting time in the human body, which leads to the spontaneous bleeding and the bleeding due to the injury and surgery. The gene that is responsible for the occurrence of hemophilia disorder is the F8 gene and the F9 gene. The F8 gene and the F9 gene are both responsible for two types of hemophilia (Rostami et al 2020). There are different types of hemophilia such as hemophilia A type and hemophilia B type, there is also another type of hemophilia according to the doctor that is called hemophilia C type.

 

Blood mainly contains many proteins, among them there are some proteins, which are called the clotting factor, which mainly causes the blood to stop bleeding following the normal bleeding system and within the normal bleeding time. A bleeding time is the time that is determined by how much time does the blood bleed after a small puncture on the skin during the test of bleeding time. The clotting time is the time that is determined by how fast the blood stops bleeding after a small puncture in the skin made by needle during the test of the clotting time (Makris et al. 2018). This is mainly the function of the platelets that works to clot the blood properly in this case many factors. There are mainly two coagulation factors: factor VIII regulated by the F8 gene and IX regulated by the F9 gene. The disease or the disorder most commonly affects the male person that is mainly defined by the deficiency in the blood clotting (Glassman et al. 2018). In this case, the responsible gene is located in the chromosomes ‘X’. the male genetic system inherit only one X chromosomes in their chromosomal set therefore if only one copy of the X chromosome carries somehow the mutated gene ( the gene, responsible for the hemophilia disorder are, gene F8 and gene F9) they will be the suffer from the disorder and as well as will suffer from the disease.

Importance of genetic diagnosis of hemophilia

Hemophilia is considered as an inherited disorder. It is also said that the hemophilia disease is commonly seen in the male person (as the male genetic system only carries one copy of ‘X’ chromosome). There are two types of genes, which are responsible for the hemophilia disorder. The mutation on the gene that is F8 and F9 causes the proteins that are responsible for the normal clotting system, function improperly. The genetic diagnosis can be carried out both on the patient band on the family member of the patient (Sahin et al. 2019). There are many types or many methods of genetic diagnosis of hemophilia that do not help the man and women to find out whether they are carriers or not to make sure about their family planning. It is very important for the child in future to diagnose the disease early if any of the parents are carriers of the hemophilia. There are huge chances for their child to get the disease in future through the inheritance as the inherited gene causes the disease.

 

To diagnose the disease hemophilia there are several genetic tests to analyse the factors that are responsible for the disease. In this case, the factor VII and factor IX are analysed by the genetic testing to identify the genetic variant that is the genetic mutation, which is preventing the gene, or stopping the gene from producing clotting factors in the proper way and that lead to the development of the disease hemophilia (Fodil et al.i 2020). The genetic diagnosis mainly helps to diagnose the carrier of the disease for the early diagnosis. Early treatment of the children with hemophilia is allowed to test to determine their carrier status for health care reasons or to know if one of the parents can pass it to their next generation children and to consider thereproductive options or to determine whether the male fetus has the disorder. (Meriem et al. 2021) In order to go through the genetic testing for determining any signs of hemophilia disorder the parents should consult the IHTC genetic counsellors. The detection of disease causing mutation is the main aim of the genetic diagnosis for the disease hemophilia. The diagnosis of hemophilia can be done by low F VIII activity with a normal antigen activity of Willebrand factors. There are many other diagnoses testing such as the bleeding time and clotting time testing, and CBC testing.

Factors responsible for hemophilia, a genetic disorder

In the disease of hemophilia there are many factors that are mainly responsible for the disorder like hemophilia. Many proteins function in the blood clotting system, and keep a balance between the bleeding time and the clotting time. Mainly the responsible factor in the blood clotting system is the blood platelets in which many protein factors take part in functioning the clotting system of blood properly (Rostami et al 2020). In this case, the thrombin protein converts the fibrinogen to a fibrous protein, which actually is an insoluble protein substance. This fibrin protein forms a long fibrous chain and thus help in stopping the bleeding by formation of blood clot, the whole system thus takes 8-15 minutes which is known as the blood clotting time, and the normal bleeding time is considered to be 2-7 minutes.

 

Hemophilia is mainly caused by the mutation in the genetic system where two particular genes such as- gene F8 and gene F9. There are mainly two protein factors, which are known as the coagulation factors such as- coagulation factor VIII and coagulation factor IX, nowadays there is another factor known as the coagulation XI factor, which is also considered to be a part of the reason behind the hemophilia. These coagulation factors work all together in the blood clotting system by sealing off the blood vessels that are damaged during an injury or during a cut on the skin (Sahin et al. 2019). Therefore, the specific genes that are involved in the blood coagulation system mainly regulate the coagulation factors. Mutation on the gene F8 and gene F9 lead to the dysfunction of the coagulation factor VIII and coagulation factor IX. Mutation on the gene F8 and F9 may produce abnormal versions of factor VIII and factor IX or may sometimes reduce the production of any one of this porting or the coagulation factor. Thus, the responsible factor is not recognized by the system and cannot participate in the blood clotting system effectively. It is very important for the child in future to diagnose the disease early if any of the parents are carriers of the hemophilia. There are huge chances for their child to get the disease in future through the inheritance as the inherited gene causes the disease.

Inheritance patterns responsible for different types of hemophilia

 The disorder associated with the disease hemophilia is an inherited disease therefore the diagnosis of the hemophilia can be done through the genetic diagnosis system in case of determining whether the disease affects the foetus child. In this case, the disease has a higher chance of being inherited to the child from the mother and the father (George et al. 2021). The mother and father of a child may not be suffering from the disease directly but they or any one of them can be a carrier of the disease. In this case, the male person has the most chances of suffering from the disease. The male person in their genetic structure mainly contain the one copy of the X chromosomes therefore there is more chances to develop the disease in case of the male person because if mutation occur in the X chromosome there is no other copy of the X chromosome in the male chromosome structure (Ncbi.nlm.nih.gov, 2022). In the case of a female, there are two copies of the chromosome X and therefore the mutation on the any factors like coagulation factor VIII or the coagulation factor IX one of the X chromosomes may cause hemophilia but the another set of the X chromosome leads to the function of the protein responsible for the clotting of blood. Therefore, a male child has more chances to suffer from the hemophilia while for a female child there are more chances to be a carrier of hemophilia than having chances for getting hemophilia but they rarely show severe symptoms.

 

Male mainly inherit only one copy of the X chromosome from the mother and the Y chromosome from the father hence, the male person only has one copy of the X chromosome. Therefore the hemophilia mainly occurs in the boys and that also mainly passes through the mother’s gene from the mother to the son and the daughters have the lower chances of getting the severe hemophilia even if the daughters get hemophilia most of the time no symptoms of the hemophilia occurs. In this case, the son gets the Y chromosome from the father, the father generally cannot pass the hemophilia allele to the son and without the allele, and the son will not be able to pass the hemophilia down to their children (Cdc.gov.ncbddd, 2021). Although, the mother is responsible for passing the disease down to their children; however, as the father’s sperm determines the sex of the child by selection of X or Y chromosome in the physiological system, the inherited disease is the fault of not any one of them as they both are responsible and contribute to the whole process.

Screening and prevalence factors of Hemophilia

Screening factors

There are several types of screening procedures for hemophilia. Screening of hemophilia is a ve4ry important concern. The hemophilia is an inherited disease, which depends on both the mother and the father’s conditions. If the mother carries the gene that is responsible for the development of the hemophilia, there is higher chance for the child to get hemophilia mainly if it is the male child and the gender of the child depends on the father’s chromosome. Therefore, an early screening of the disease hemophilia can be very helpful for the child to diagnose it and give a proper treatment (Rodríguez et al. 2020). It also can be said by a genetic screening that how likely an inhibitor can be developed by a person.

 

The screening test of hemophilia includes the blood test. It includes the test of the bleeding time and the clotting time, whether the blood of a person is clotting within a normal clotting time of blood. A clotting factor test can also be done that is called the factor assaytest in which a bleeding disorder is diagnosed. By these tests, the types of hemophilia and the severity of hemophilia can be detected. Other screening test for hemophilia are ab complete blood count  that is the (CBC), Activated Partial Thromboplastin Time that is (APTT) and a Partial thromboplastin Time that is (PTT), a Thrombin Time (TT) and a Prothrombin Time (PT) (Ncbi.nlm.nih.gov, 2022). There is another screening test that is vWF:Ag test that is the antigen activity of Willebrand factors which is a great area for the evaluation of hemostasis. In case of screening hemophilia a prolonged screening test must be followed through the determination of the coagulation factors.

Prevalence factors

There are huge cases of hemophilia reported throughout the world, which is more in the male patients. The report shows there are approximately 1 case per 5000 male throughout the world. It is also reported that one third of individuals of the above data do not have a family history of the hemophilia disorder. Although this report varies with the different countries has been done (Kadhim et al. 2019). Both hemophilia A and hemophilia B occur more in the male child than the female child does. Worldwide. Hemophilia A condition is 1 in 4000 to 5000 in new-born male children with this disorder and in case of hemophilia B it is 1 in 20,000 new-born male worldwide.

Hemophilia A is the most common disorder, which is considered to be X-linked genetic disease. The prevalence of Hemophilia A varies with the fact of the reporting of the different countries. It was reported that about 50-60% of the patients suffer from the severe hemophilia A associated with the severest bleeding, 25-30% of the patients suffer from the manifest bleeding with moderate hemophilia A (Reinicke et al. 2019). In this case, factor FVIII is mainly responsible; therefore, an early detection or early genetic screening of the parents or a previously informed hemophilia history in the family can lower the rate of the disease.

In the case of hemophilia B is less common than the hemophilia A. It affects approximately 25000 to 30,000 males. The type of hemophilia B is mainly caused by the coagulation factor IX and this type of the hemophilia disorder called the Christmas factor or the Christmas disease after the name of the Scientist. Only through the genetic screening or other screening process, one can detect the chances of occurrence of hemophilia and in case of future planning the parents can go through the early chances of hemophilia (Kadhim et al. 2019). Therefore as the hemophilia is a genetic disorder there are no preventive measures available for the patient on going through some treatment the disease can be controlled like use of  desmopressin as a treatment procedure can help in moderate and severe hemophilia but not effective with type B hemophilia. Aminocaproic acid or tranexamic acids are also used to treat the disease.

Clinical features of hemophilia

The main character that participate in coagulation of blood or the clotting of the blood within the normal clotting time is the platelets of the blood where the fibrin protein act by making a fibrous net like structure that help the blood to clot within the normal clotting time (Makris et al. 2018). In this case, absence or dysfunction of any of the components can lead to the difficult hands abnormality in the blood clotting system.

The genes that are involved are F8 and F9, which are responsible for the regulation of the protein coagulation factor VIII and protein coagulation factor IX respectively (Rodríguez et al. 2020). This factor then facilitates the fiction of blood clotting. In case of any changes on the genetic structure or mutation on the specific gene F8 and F9 causes the dysfunction of the blood clotting system leading to the occurrence of hemophilia.

The disorder of hemophilia mainly occurs more in the male child due to having the chromosome with one copy of X than the female child who has two copies of the X chromosome. Maximum chances of passing the disease are by the mother chromosome to the child although the child will be a boy or girl depending on the father’s chromosome.

Depending on the factors hemophilia is of two types mainly hemophilia A which is most commonly associated with severest symptoms and another is hemophilia B that is less common (Reinicke et al. 2019). The symptoms of hemophilia include sleepiness, nausea, vomiting, blood in the urine, nosebleed without any known reason, pain swelling, and tightness in the k points and unexplained bleeding from any small injury or cut or after the vaccination.

There are no prevention methods available for the disease hemophilia as it is the inherited genetic disorder. There are many areas regarding the disease hemophilia and its treatment, which are still not discovered and explained. Therefore, patients with hemophilia are only treated with some medications that are available.

Conclusion

Hemophilia is an inherited disorder that is associated with the dysfunction in the blood clot system and with unexplained bleeding. Several factors are responsible for Hemophilia is a disease that is caused by the mutation of some particular responsible genes in the genetic symptoms. The occurrence of the disease not only involves the genetic mutations or the changes on the genetic structure but also involves many proteins that are regulated by those particular genes and the proteins that are responsible in their occurrence of this disease involve some coagulation factors. In the modern medical system, it is now possible to treat any genetic disease with the application of genetic engineering. Hemophilia is a disorder i n which the blood clotting system is affected and therefore if a person with hemophilia disorder gets a cut or any kind of injury that causes bleeding, in that case the blood does not stop to bleed within the normal clotting time. In this case, the genes, which are responsible for the dysfunction of the clotting system, are screened to detect the disease and many other screening systems, which are also used for an early detection of the disease so that the patient can be treated as early as possible.

References

Journal

Bai, H., Xue, X., Tian, L., Liu, X.T. and Li, Q., 2021. Case Report: Identification of a de novo Missense Mutation in the F8 Gene, p.(Phe690Leu)/c. 2070C> A, Causing Hemophilia A: A Case Report. Frontiers in genetics, p.1603.

El Maataoui, H., Fahi, A. and Oukkache, B., 2018. Sickle cell trait and haemophilia: a rare association. Pan African Medical Journal, 29(1), pp.1-3.

Fodil, M. and Zemani, F., 2020. In Silico Study of Correlation between Missense Variations of F8 Gene and Inhibitor Formation in Severe Hemophilia A. Turkish Journal of Hematology, 37(2), p.77.

George, L.A., Monahan, P.E., Eyster, M.E., Sullivan, S.K., Ragni, M.V., Croteau, S.E., Rasko, J.E., Recht, M., Samelson-Jones, B.J., MacDougall, A. and Jaworski, K., 2021. Multiyear factor VIII expression after AAV gene transfer for hemophilia A. New England Journal of Medicine, 385(21), pp.1961-1973.

Girolami, A., Ferrari, S., Cosi, E., Santarossa, C. and Randi, M.L., 2018. Vitamin K-dependent coagulation factors that may be responsible for both bleeding and thrombosis (FII, FVII, and FIX). Clinical and Applied Thrombosis/Hemostasis, 24(9_suppl), pp.42S-47S.

Glassman, F.Y. and Balu-Iyer, S.V., 2018. Subcutaneous administration of Lyso-phosphatidylserine nanoparticles induces immunological tolerance towards Factor VIII in a Hemophilia A mouse model. International journal of pharmaceutics, 548(1), pp.642-648.

Jourdy, Y., Janin, A., Fretigny, M., Lienhart, A., Négrier, C., Bozon, D. and Vinciguerra, C., 2018. Reccurrent F8 intronic deletion found in mild hemophilia a causes alu exonization. The American Journal of Human Genetics, 102(2), pp.199-206.

Jourdy, Y., Janin, A., Fretigny, M., Lienhart, A., Négrier, C., Bozon, D. and Vinciguerra, C., 2018. Reccurrent F8 intronic deletion found in mild hemophilia a causes alu exonization. The American Journal of Human Genetics, 102(2), pp.199-206.

Kadhim, K.A.R., Al-Lami, F.H. and Baldawi, K.H., 2019. Epidemiological profile of hemophilia in Baghdad-Iraq. INQUIRY: The Journal of Health Care Organization, Provision, and Financing, 56, p.0046958019845280.

Makris, M., Oldenburg, J., Mauser-Bunschoten, E.P., Peerlinck, K., Castaman, G. and Fijnvandraat, K., 2018. The definition, diagnosis and management of mild hemophilia A: communication from the SSC of the ISTH. Journal of Thrombosis and Haemostasis, 16(12), pp.2530-2533.

Meriem, A. and Faouzia, Z.F., 2021. Hemophiliacs A patients from Algeria without mutation or rearrangement in the F8 gene. South Asian Journal of Experimental Biology, 11(6), pp.685-689.

Reinicke, K., Søgaard, I.S. and Mentzler, S., 2019. Masculinity challenges for men with severe hemophilia. American journal of men's health, 13(4), p.1557988319872626.

Rodríguez-Merchán, E.C., Pablo-Moreno, D., Andres, J. and Liras, A., 2021. Gene Therapy in Hemophilia: Recent Advances. International Journal of Molecular Sciences, 22(14), p.7647.

Rostami, S., Namaki KHameneh, S., Keikhaei Dehdezi, B. and Haghighizadeh, M.H., 2020. The effect of family-centered empowerment on quality of life in children with hemophilia. Avicenna Journal of Nursing and Midwifery Care, 28(1), pp.1-10.

Sahin, S., Sadri, S., Baslar, Z. and Ar, M.C., 2019. Osteoporosis in patients with hemophilia: single-center results from a middle-income country. Clinical and Applied Thrombosis/Hemostasis, 25, p.1076029619861689.

Walsh, C., Boggio, L., Brown?Jones, L., Miller, R., Hawk, S., Savage, B., Hansen, K., Molter, D., Baumann, K., Dunn, S. and Skinner, M.W., 2021. Identified unmet needs and proposed solutions in mild?to?moderate haemophilia: a summary of opinions from a roundtable of haemophilia experts. Haemophilia, 27, pp.25-32.

Websites

Cdc.gov.ncbddd, 2021, How Hemophilia is Inherited Available at: https://www.cdc.gov/ncbddd/hemophilia/inheritance-pattern.html [accessed on 04.05.2022]

Cdc.gov.ncbddd, 2022 A New Study of Hemophilia Occurrence Finds Many More Cases In The United States, Available at https://www.cdc.gov/ncbddd/hemophilia/features/keyfinding-hemophilia-occurrence-US.html [accessed on 04.05.2022]

Ncbi.nlm.nih.gov, 2022, Clinical and Laboratory Approaches to Hemophilia A, Available at: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4430880/ [accessed on: 04.05.2022]

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