PB1254 - Clinical Characteristics and Genotypic Landscape of Moderate to Severe Hemophilia A patients in a Hemophilia Treatment Center

Tuesday, June 25, 2024

13:45 – 14:45 ICT

Room: Exhibition Hall

Presenting Author(s)

Christopher Chin Keong Liam, MBBChBAO (NUI), MRCP (UK)

Clinical haematologist
Hospital Sultanah Aminah
Johor Bahru, Johor, Malaysia

Co-Author(s)

YM

Yuslina Mat Yusoff

Pathologist (Haematology)
Institute for Medical Research, Kuala Lumpur
Kuala Lumpur, Kuala Lumpur, Malaysia
YW

Yu Qi Wong

Medical Officer
Hospital Sultanah Aminah
Johor Bahru, Johor, Malaysia
YB

Yang Liang Boo

Clinical haematologist
Hospital Sultanah Aminah
Johor Bahru, Johor, Malaysia
NA

Nursaedah Abdullah Aziz

Research Officer
Institute for Medical Research, Kuala Lumpur
Kuala Lumpur, Kuala Lumpur, Malaysia
KL

Kah Yuen Lam

Research Officer
Institute for Medical Research, Kuala Lumpur
Kuala Lumpur, Kuala Lumpur, Malaysia
YW

Yih Seong Wong

Clinical haematologist
Hospital Sultanah Aminah
Johor Bahru, Johor, Malaysia
WC

Wan Lan Choon

Haematology Fellow
Hospital Sultanah Aminah
Johor Bahru, Johor, Malaysia
AS

Azizan Sharif

Clinical haematologist
Hospital Sultanah Aminah
Johor Bahru, Johor, Malaysia
JG

Jiet Hui Goh

Pharmacist
Hospital Sultanah Aminah
Johor Bahru, Johor, Malaysia
HT

Hui Han Teh

Pharmacist
Hospital Sultanah Aminah
Johor Bahru, Johor, Malaysia
SL

Soo Min Lim

Consultant haematologist
Hospital Sultanah Aminah
Johor Bahru, Johor, Malaysia

Background: Hemophilia A is an inherited bleeding disorder characterized by factor VIII deficiency (FVIII). The standard of care for patients with moderate and severe haemophilia A with FVIII levels < 3% and a bleeding phenotype is regular prophylaxis treatment.

Aims: This study aims to evaluate the clinical characteristics, and treatment complications and to determine the local genotypic profile among patients with haemophilia (PWH).

Methods: This retrospective cross-sectional review included haemophilia A patients with moderate to severe FVIII levels of < 3% registered in the haemophilia clinic from 1st January 2022 to 31st December 2023. Clinical data were obtained from manual and electronic records. Inverse Polymerase Chain Reaction (PCR) and Sanger sequencing methods were performed to detect FVIII mutations. Multiplex Ligation-dependent Probe Amplification (MLPA) to detect any deletion or duplication in the FVIII gene.

Results: Thirty-six male patients were reviewed with a median age of 30.5 years old (range 14 – 70). Nine patients (25%) had no significant family history. 6 patients (16.7%) had a documented history of inhibitors. 33 patients received plasma-derived FVIII prophylaxis with mean weekly dosing of 42.8 IU/kg. 2 patients received fitusiran, and 1 patient received activated factor VII (FVIIa). The mean annualized joint bleeding rate (ABJR) and annualized bleeding rate (ABR) were 1.86 and 2.94 respectively. In the interim, 33 patients from 23 families had performed FVIII mutation analysis. Intron 22 inversion (n=10, 44%) was found to be the most common FVIII mutation.

Conclusion(s): Our study findings demonstrated that the clinical characteristics in our patient's cohort did not differ significantly from other reported local and international studies. Regular prophylaxis even with a low-dose factor or non-factor replacement is effective in reducing bleeding and treatment-related complications and thus improving the quality of life among PWH. It represents an insight to correlate mutational profile with clinical presentation.