Posted by For my STEAM project, I researched Hemophilia A and B. My project aligns with the objective of identifying blood disorders and their treatment. My art project illustrated the bleeding that won’t stop.
One of my favorite cartoons growing up was “Anastasia.” The story is based on a real girl, Anastasia Romanov, who was one of the last Russian royalty. Later, I learned that Anastasia and her entire family were brutally killed during the Russian Revolution. Anastasia’s and her brother Alexey’s bodies were never found. Even though for a long time, the hope of Anastasia’s escape was kept alive, it was pretty certain that Alexey could not have survived any kind of trauma because he was hemophiliac.
Hemophilia is a genetic disorder. It is when there is an inadequate production of functional amounts of one or more clotting factors in blood, which means that patients with hemophilia bleed from even minor internal and external wounds, and leak blood into joint spaces after exercise and into urine and stool (Betts et al., 2022, # 738). Patients with severe hemophilia frequently develop hemorrhages into joints, muscles, or soft tissues without any apparent cause. They can also suffer from life-threatening bleeding episodes such as intracranial hemorrhages (Smith, 2019).
There are three types of hemophilia: A, B, and C. The A type is the most common, accounting for 80 percent of all patients. This disorder results in the inability to synthesize sufficient quantities of factor VIII. Hemophilia B is the second most common form, accounting for approximately 20 percent of cases. In this case, there is a deficiency of factor IX. Both of these defects are linked to the X chromosome and are typically passed from a healthy female carrier to their male offspring, since males are XY (Betts et al., 2022, # 738). The prevalence of congenital hemophilia A (HA) is 1 in 5,000 live male births, and for hemophilia B (HB) it is 1 in 30,000 live male births (Smith, 2019).
Initial descriptions of hemophilia date back to as early as the second century in the Talmud, which state that male babies should not be circumcised if two previous male siblings died of excessive bleeding as a result of circumcision. Albucasis later described a family in which males died following minor injuries, and John Conrad Otto is credited with the first modern description of the disease in 1803 (Castaman, G., & Matino, 2019). Hemophilia has also been referred to as the “royal disease” because various members of the royal families were affected by it. Queen Victoria of England is reported to have been an HB carrier. Her only son, Leopold, had hemophilia, and her two daughters were carriers and transmitted the disease to the Russian, German, and Spanish royal families (Castaman, G., & Matino, 2019). So, Alexey, the only son of the last Russian tsar, had the disease.
During the first half of the twentieth century, the life expectancy of patients with hemophilia ranged from about 15 to about 24 years (Castaman, G., & Matino, 2019). Today, hemophiliacs live much happier and longer lives. Scientists are working hard to develop new hemostatic drugs with extended half-lives that reduce the need for more frequent administration. These drugs have also been optimized for improved safety and efficacy. This has led to measurable reductions in the major complications associated with severe hemophilia. Patients are also educated about hemophilia, which really helps. These drugs, however, are not the cure for hemophilia. The only potential cure for hemophilia is gene therapy (Smith, 2019).
References:
Betts, J. G., Desaix, P., Johnson, E., Johnson, J. E., Korol, O., Kruse, D., Poe, B., Wise, J. A., Womble, M. D., & Young, K. A. (2022). Anatomy and Physiology 2e. OpenStax.
Castaman, G., & Matino, D. (2019). Hemophilia A and B: molecular and clinical similarities and differences. Haematologica, 104(9), 1702–1709. https://doi.org/10.3324/haematol.2019.221093
Smith, L. J. (2019, January 1). Hemophilia. Clinical Laboratory Science. Retrieved March 27, 2025, from https://clsjournal.ascls.org/content/32/1/21
This project explores Hemophilia A and B, focusing on their genetic basis, historical significance, and current treatments. Hemophilia is a rare X-linked recessive bleeding disorder characterized by deficiency of specific clotting factors, factor VIII in Hemophilia A and factor IX in Hemophilia B. These deficiencies can result in prolonged bleeding, spontaneous hemorrhages, and joint damage, particularly in severe cases.
This work connect historical context to the scientific discussion by referencing the Romanov family and the spread of hemophilia through European royalty, originating with Queen Victoria. This historical narrative supports the understanding of hemophilia’s inheritance patterns and highlights the impact of genetics on real world events.
This piece outlines the evolution of hemophilia treatment, from early challenges in managing bleeding episodes to the development of factor replacement therapies. Recent advances in drug formulation have extended the half life of clotting factors, reducing the frequency of administration and improving quality of life. While current treatments are effective in managing symptoms, gene therapy is identified as the only potential cure under active research.
This summary highlights the complexity of hemophilia as both a medical and historical condition. It reinforces the importance of genetic inheritance inn disease transmission and demonstrates how modern science is addressing the limitations of past treatments through innovation and education.