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Ifeanyichukwu Ifechidere: Haemophilia A and B – From First Diagnosis to the Era of Gene Therapy

Ifeanyichukwu Ifechidere/LinkedIn

Jul 8, 2026, 11:33

Ifeanyichukwu Ifechidere: Haemophilia A and B – From First Diagnosis to the Era of Gene Therapy

Ifeanyichukwu Ifechidere, Specialist Biomedical Scientist at Sheffield Teaching Hospitals NHS Foundation Trust, shared a post onshared a post on LinkedIn:

“Haemophilia A and B: From Diagnosis to Gene Therapy — The Complete Journey

Haemophilia care has evolved dramatically over the past few decades. What was once managed primarily with episodic factor replacement has progressed to personalized prophylaxis, non-factor therapies, and now the promise of gene therapy.

Here’s a snapshot of the modern patient journey:

Diagnosis

The journey begins with clinical suspicion—unexplained bleeding, prolonged aPTT, or a family history. Laboratory evaluation includes Factor VIII and Factor IX assays to diagnose Haemophilia A or B and classify severity:

Severe: <1%
Moderate: 1–5%
Mild: 5–40%

Accurate factor assays remain the cornerstone of diagnosis and treatment planning.

Inhibitor Screening

Some patients develop inhibitors—neutralizing antibodies that reduce the effectiveness of replacement factor therapy. Routine screening using the Bethesda (Nijmegen-modified) assay is recommended after intensive factor exposure, before surgery, or when treatment response is unexpectedly poor. Early detection guides optimal clinical management.

Personalized Prophylaxis

The goal of prophylaxis has shifted from simply preventing bleeds to preserving joint health and improving quality of life. Treatment is now individualized based on bleeding phenotype, pharmacokinetics, lifestyle, and patient preferences. Extended half-life factor concentrates have further reduced infusion frequency.

The Emicizumab Era

Emicizumab has transformed care for many patients with Haemophilia A by mimicking the function of activated Factor VIII. However, it has also changed laboratory practice. Standard aPTT-based and one-stage FVIII assays may produce misleading results, making bovine chromogenic FVIII assays the preferred method for accurate monitoring.

Gene Therapy: A New Frontier

Gene therapy is redefining expectations by enabling sustained endogenous production of clotting factors through viral vector technology. Clinical studies have demonstrated significant reductions in annual bleeding rates, decreased dependence on prophylaxis, and improved quality of life for eligible patients.

Despite its promise, challenges remain, including long-term durability, immune responses, patient selection, liver monitoring, cost, and accessibility.

The future of haemophilia care is no longer just about replacing missing clotting factors—it is about precision diagnostics, innovative therapeutics, and close collaboration between clinicians, laboratory professionals, pharmacists, and researchers.

As therapies continue to evolve, laboratory medicine remains central to delivering accurate diagnosis, appropriate monitoring, and personalized patient care.

What do you think will define the next breakthrough in haemophilia management—gene editing, next-generation non-factor therapies, or advanced laboratory diagnostics?”

Ifeanyichukwu Ifechidere: Haemophilia A and B - From First Diagnosis to the Era of Gene Therapy