Introduction

Hemophilia is a rare inherited genetic disorder that affects only one in every 10,000-40,000 people, depending on the type (Cimino, 2018).  The disorder has two types, Hemophilia A, and Hemophilia B.  Hemophilia A is a deficiency of growth factor VIII, and Hemophilia B is a deficiency of growth factor IX.  Both growth factors are essential proteins in the process of blood clotting, and the deficiency of the factors leads to the inability to form blood clots (Bicocchi, 2003).  Both factors are usually located on the X chromosome, and deficiency of factor IX is more common in males (Simioni, 2009).  The word hemophilia comes from Greek haima, meaning “blood,” and philia, meaning “to love” (Harper, 2008).

Signs and Symptoms

The symptoms of Hemophilia A and B are similar, with both being easily recognizable.  It is commonly seen as excessive bleeding for normally small injuries, bleeding in the joints, and bleeding in the brain.  Signs of hemophilia from external bleeding are excessive bleeding in the mouth from a bite or cut, nosebleeds from no clear cause, intense bleeding from a minor cut, or bleeding from a previously closed cut.  Signs of internal bleeding are blood in urine, stool, ecchymoses, or spontaneously forming bruises (Franchini, 2013).  The main sign of bleeding in the joints is swelling in the joint, pain, and eventually, movement can be lost.  The signs of bleeding in the brainare repeated vomiting, clumsiness, and seizures.  This can lead to loss of consciousness, brain damage, and in severe cases, death (Rodriguez-Merchan, 2010). The severity of Hemophilia is determined by the amount of clotting factor missing.

Pathophysiology

Hemophilia is an inherited genetic disorder, caused by the deficiency of growth factor VIII or IX.  The disorder is X-linked recessive, so a mother might be a carrier of the disorder, and if the father does not have the disorder, then there is a 50 percent chance the disorder will affect a son, and a daughter would not carry the disease unless both the mother and father are affected.  Due to this, males are more commonly affected than females (Simioni, 2009).  If a father is affected, and not the mother, then the daughter will be a carrier, and the son will be unaffected, as the disorder does not affect the Y chromosome (Peck, 2013).

Diagnosis and Assessment

Hemophilia can be diagnosed in several ways.  If there is a known family history, it can be diagnosed before birth through genetic testing.  After birth, a blood test can validate the diagnosis of Hemophilia A or B.  If there is no known family history, the disorder can only be diagnosed with a blood test after the child learns to walk, as the baby will experience easy bruises (Cimino, 2018).  The blood test would look for slowed clotting of a minor cut (Rodriguez-Merchan, 2010).

General Prognosis

If untreated, the life expectancy of people with severe and moderate hemophilia is greatly shortened, and in extreme cases, lifespans do not reach maturity.  Before the 1960s, when treatment was available, severe hemophilia led to an average lifespan of 11 years (Drelich, 2019).  In recent years, with treatment, the life expectancy is 50 to 60 years.  By using a treatment plan, quality of life can be similar to normal, however, children with hemophilia will need extra protection, even with medication (Charlebois, 2018).  Severe hemophiliacs should avoid intense activities like sports, as even with medication, can still cause increased bleeding (Charlebois, 2018).

First-line Treatment Recommendations

The main treatment of Hemophilia is with replacement therapy.  The replacement of clotting factors VIII or IX is usually only needed for moderate and severe hemophilia A and Bbut can be used for mild hemophilia.  The most common sources of replaced growth factors come from pig’s milk and hamster ovaries (Paleyanda, 1997; Vorobiev, 2017).  Human growth factors cannot be used because the body would create antibodies to attack the factor.  Treatment must be given multiple times a week, or the major symptoms of hemophilia will return(Cimino, 2018).  Desmopressin, a man-made hormone, can also be used; however, it can only be used for mild hemophilia A, as it releases factor VIII in small amounts (Mannucci, 1997).

References

Bicocchi, P., Pasino, M., & Bottini, F. (2003). Analysis of 18 novel mutations in the factor VIII gene. British Journal of Haematology, 122(5), 810-817. https://doi.org/10.1046/j.1365-2141.2003.04494.x

Charlebois, J. (2018). Management of acquired hemophilia A: Review of current evidence. Transfusion and apheresis science, 57(6), 717-720. https://doi.org/10.1016/j.transci.2018.10.011

Cimino, J. (2018, February 28). Hemophilia. Retrieved February 7, 2019, from National Institute of Heart, Lung, and Blood website: https://www.nhlbi.nih.gov/health-topics/hemophilia#Signs,-Symptoms,-and-Complications

Drelich, D. (2019, January 14). Hemophilia A (S. Nagalla, Ed.). Retrieved February 7, 2019, from Medscape website: https://emedicine.medscape.com/article/779322-overview

Franchini, M. (2013). Acquired haemophilia A: A 2013 update (2013). Thrombosis and haemostasis, 6(110), 1114-1120. https://doi.org/10.1.1.684.7962

Harper, D. (2008, March 6). hemophilia (n.). Retrieved February 7, 2019, from Online Etymology Dictionary website: https://www.etymonline.com/word/hemophilia#etymonline_v_9150

Mannucci, M. (1997). Desmopressin (DDAVP) in the Treatment of Bleeding Disorders: The First 20 Years. Blood, 90(7), 2515-2521. Retrieved from http://www.bloodjournal.org/content/90/7/2515?sso-checked=true

Paleyanda, R., & Scandella, D. (1997). Transgenic pigs produce functional human factor VIII in milk. Nature Biotechnology, 15(10), 971-975. https://doi.org/10.1038/nbt1097-971

Peck, K. (2013, March 7). What are Punnett squares and how do they work? Retrieved February 7, 2019, from UNC Biology Pen Pal Program website: http://penpals.web.unc.edu/2013/03/07/what-are-punnett-squares-and-how-do-they-work/

Rodriguez-Merchan, C. (2010). Musculoskeletal Complications of Hemophilia. HSS Journal, 6(1), 37-42. https://doi.org/10.1007/s11420-009-9140-9

Simioni, P., & Tormene, D. (2009). X-Linked Thrombophilia with a Mutant Factor IX (Factor IX Padua). The New England Journal of Medicine, 361, 1671-1675. https://doi.org/10.1056/NEJMoa0904377

Vorobiev, I., Kovnir, S., & Orlova, N. (2017). Stable high-level expression of factor VIII in Chinese hamster ovary cells in improved elongation factor-1 alpha-based system. BMC Biotechnology. https://doi.org/10.1186/s12896-017-0353-6

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