Hematology and Blood Disorders

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Editorial - Hematology and Blood Disorders (2025) Volume 8, Issue 2

Blood in Crisis: Understanding Hemophilia and Its Impact

Batailler Caton *

Department of medicine, Cardiff University, Cardiff, Wales, UK

*Corresponding Author:
Batailler Caton
Department of medicine,
Cardiff University, Cardiff, Wales, UK
E-mail: batailler@caton.fr

Received: 01-Aug-2025, Manuscript No. AAHBD-24-171213; Editor assigned: 03-Aug-2025, PreQC No. AAHBD-24-171213(PQ);Reviewed:16-Aug-2025, QC No. AAHBD-24-171213; Revised:18-Aug-2025, Manuscript No. AAHBD-24-171213(R); Published: 24-Aug-2025, DOI:10.35841/AAHBD-8.2.216

Citation: Caton B. Blood in crisis: Understanding hemophilia and its impact. Hematol Blood Disord. 2025;8(2):216

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Introduction

Hemophilia, a rare but serious genetic disorder, represents a profound challenge in the realm of hematology. Characterized by the body's inability to form proper blood clots due to missing or deficient clotting factors, hemophilia can lead to prolonged bleeding, internal hemorrhages, and life-threatening complications. Despite medical advances, the condition continues to affect thousands globally, often with devastating consequences for patients and their families [1].

Hemophilia is a bleeding disorder caused by a deficiency in clotting factors—proteins essential for blood coagulation. The most common types are: Caused by a deficiency in clotting factor VIII. Caused by a deficiency in clotting factor IX. Less common, involving factor XI deficiency. These clotting factors work alongside platelets to form clots and stop bleeding. Without them, even minor injuries can result in excessive bleeding. In severe cases, spontaneous internal bleeding can occur, particularly in joints and muscles [2].

Hemophilia is typically inherited in an X-linked recessive pattern. Since males have only one X chromosome, they are more likely to be affected if they inherit the defective gene. Females, with two X chromosomes, are usually carriers but can also exhibit symptoms if both X chromosomes carry the mutation2. Acquired hemophilia, though rare, can develop later in life due to autoimmune responses where the body attacks its own clotting factors. Globally, hemophilia affects over 200,000 people, but recent estimates suggest the actual number may exceed 1.1 million due to underdiagnosis, especially in low-resource settings. In the United States alone, approximately 33,000 individuals are living with hemophilia, predominantly males [3].

However, challenges remain, including immune responses and long-term efficacy. Continued research is essential to make gene therapy widely accessible and affordable. Hemophilia imposes a significant economic burden. The cost of clotting factor concentrates can exceed $300,000 annually per patient. In countries without universal healthcare, this cost is prohibitive, leading to inadequate treatment and increased morbidity. Socially, hemophilia affects education, employment, and mental health. Children may miss school due to frequent hospital visits, while adults often face job discrimination or limitations due to physical restrictions. In developing nations, access to diagnosis and treatment is limited. Many patients remain undiagnosed or receive inadequate care. The World Federation of Hemophilia (WFH) has launched initiatives to improve access to treatment and education, but disparities persist. The condition is more prevalent among white and Hispanic populations, with lower incidence among Black and Asian communities, though the reasons for this disparity remain under investigation. Symptoms vary depending on the severity of the clotting factor deficiency: Easy bruising, Prolonged bleeding after injuries or surgeries, Spontaneous bleeding into joints, muscles, or organs [4].

One of the most serious complications is intracranial hemorrhage, which can occur from a minor head injury and may be fatal if untreated. Diagnosis involves blood tests to measure clotting factor levels. Genetic testing may also be used to identify mutations. Infusions of clotting factor concentrates.  Synthetic hormone used in mild cases of Hemophilia A. Help prevent clots from breaking down. Blood product safety is another concern. In the past, contaminated blood products led to widespread HIV and hepatitis infections among hemophilia patients. Rigorous screening and recombinant products have since reduced this risk, but vigilance remains crucial. Prophylactic treatment—regular infusions to prevent bleeding—is now the standard of care for severe cases, significantly improving quality of life. Gene therapy has revolutionized hemophilia treatment. By introducing functional copies of the defective gene, patients can potentially produce their own clotting factors. Clinical trials have shown promising results, with some patients achieving near-normal clotting factor levels [5].

Conclusion

Despite its challenges, many individuals with hemophilia lead fulfilling lives. Support groups, advocacy organizations, and improved therapies have empowered patients to manage their condition effectively. Education and awareness are key. Families, schools, and workplaces must understand the condition to provide appropriate support. With early diagnosis and proper treatment, life expectancy for hemophilia patients now approaches that of the general population.

References

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