Premium Nahrungsergänzungsmittel | artgerecht

Hemophilia A – Causes, Symptoms and Treatment

Hemophilia A is an inherited bleeding disorder caused by a deficiency of clotting factor VIII. Those affected tend to experience prolonged and excessive bleeding.

Regular tips about health Regular tips about health

Things worth knowing about "Hemophilia A"

Hemophilia A is an inherited bleeding disorder caused by a deficiency of clotting factor VIII. Those affected tend to experience prolonged and excessive bleeding.

What is Hemophilia A?

Hemophilia A is the most common form of hemophilia and is an inherited disorder affecting blood clotting. It is caused by a deficiency or dysfunction of clotting factor VIII, which is essential for normal coagulation. Without sufficient levels of this factor, the body cannot effectively stop bleeding. The condition primarily affects males, as it follows an X-linked recessive inheritance pattern.

Causes

Hemophilia A is caused by a mutation in the gene encoding factor VIII, located on the X chromosome. Because males have only one X chromosome, a single faulty copy of the gene is sufficient to cause the disease. Females with a mutation on one of their two X chromosomes are typically carriers and usually experience no or only mild symptoms.

X-linked recessive inheritance pattern
Point mutations, deletions, or inversions in the F8 gene
Approximately 30% of cases have no family history (de novo mutations)

Severity Classification

Hemophilia A is classified into three severity levels based on the residual factor VIII activity in the blood:

Mild: Factor VIII activity 5–40% – bleeding usually only occurs after injury or surgery
Moderate: Factor VIII activity 1–5% – occasional spontaneous bleeding possible
Severe: Factor VIII activity below 1% – frequent spontaneous bleeding, particularly into joints and muscles

Symptoms

The hallmark symptom of hemophilia A is prolonged or excessive bleeding. Typical symptoms include:

Hemarthroses – bleeding into joints (especially the knees, elbows, and ankles), which can lead to pain and long-term joint damage
Muscle bleeds (hematomas)
Prolonged bleeding after injuries, surgeries, or tooth extractions
Spontaneous nosebleeds or gum bleeding
In severe cases: life-threatening internal bleeding or intracranial hemorrhage

Diagnosis

Diagnosis is made through laboratory coagulation testing:

Measurement of factor VIII activity in the blood
Prolonged aPTT (activated partial thromboplastin time) with normal prothrombin time (PT)
Genetic testing to identify the causative mutation
Prenatal diagnosis and carrier testing in families with a known history of the condition

Treatment

Treatment of hemophilia A focuses on replacing the missing factor VIII and preventing or managing bleeding episodes.

Factor VIII Replacement Therapy

The standard treatment is intravenous infusion of factor VIII concentrate, either derived from human plasma or produced by recombinant technology. It can be used as on-demand therapy (for acute bleeding) or as prophylaxis (regular infusions to prevent bleeds).

Emicizumab (Hemlibra)

Emicizumab is a bispecific antibody that mimics the function of factor VIII and can be administered subcutaneously. It represents an important treatment option, particularly for patients who have developed inhibitors (antibodies against factor VIII).

Inhibitor Development

Approximately 25–30% of patients with severe hemophilia A develop inhibitors against factor VIII, which significantly complicates treatment. In these cases, bypassing agents or emicizumab are used to manage bleeding.

Gene Therapy

Recent advances in gene therapy (e.g., valoctocogen roxaparvovec) allow a functional copy of the F8 gene to be delivered to liver cells, enabling long-term factor VIII production. This therapy has been approved for selected adult patients with severe hemophilia A.

References

Srivastava A. et al. – WFH Guidelines for the Management of Hemophilia, 3rd Edition. Haemophilia 2020; 26(S6): 1–158. World Federation of Hemophilia (WFH).
Lenting PJ, Denis CV, Christophe OD – Emicizumab, a bispecific antibody recognizing coagulation factors IX and X. J Thromb Haemost 2017; 15(10): 1894–1898.
European Medicines Agency (EMA) – Product information for Roctavian (Valoctocogen Roxaparvovec), 2022.

Building Blocks for a Healthy Life

As an integrated manufacturer, we develop & produce evidence-based, patented, and non-patented formulations. We work exclusively with plant and natural extracts according to the strictest purity & quality standards.
The combination of science & modern technology with the laws of nature creates solutions consistently tailored to humans – for the highest good: health.

Most read entries

3 Posts in this encyclopedia category