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  1. Fulltext Factor IX mutations in haemophilia B patients in Malaysia: a preliminary study
    Balraj P, Ahmad M, Khoo AS, Ayob Y
    Malays J Pathol, 2012 Jun;34(1):67-9.
    PMID: 22870602 MyJurnal
    Haemophilia B is caused by coagulation defects in the factor IX gene located in Xq27.1 on the X chromosome. Identification of mutations contributing to defective factor IX may be advantageous for precise carrier and prenatal diagnosis. We studied 16 patients from 11 families, consisting of 8 patients of the Malay ethnic group, of which 6 were siblings. Factor IX mutations have not been previously reported in the Malay ethnic group. The functional region of the factor IX gene was sequenced and mutations were identified in either the exon or intronic regions in 15 of the patients. One novel mutation, 6660_6664delTTCTT was identified in siblings with moderate form of haemophilia B. Mutations identified in our patients when linked with disease severity were similar to findings in other populations. In summary, this preliminary data will be used to build a Malaysian mutation database which would facilitate genetic counseling.
    Matched MeSH terms: Hemophilia B/diagnosis*
  2. Fulltext Detection of carrier status of hemophilia B using DNA markers
    Ishak R, Zakaria Z
    Southeast Asian J Trop Med Public Health, 1997 Sep;28(3):629-30.
    PMID: 9561621
    Hemophilia B is an X-linked recessive disorder of the hemostasis involving a defective clotting factor IX. Amplification of the regions containing restriction fragment length polymorphisms (RFLP) can be achieved by the use of polymerase chain reaction (PCR). This paper describes the analysis of 2 RFLPs involving the Dde1 and Taq1 restriction sites within the factor IX gene in a family with hemophilia B. Digestion of the PCR products with Taq1 revealed a 163bp fragment in all the family members. This finding suggests the absence of restriction site for Taq1 enzyme. However, the Dde1 digest results in bands 369bp and 319bp segregated amongst the family members. The pattern of inheritance of the 369bp fragment in this family suggested that both the patient's mother and aunt are not carriers and that the patient's factor IX gene could have undergone a de novo mutation producing a defective factor IX gene responsible for the hemophilia B. This is supported by the fact that no family history of hemophilia B is indicated in the other male members within the family.
    Matched MeSH terms: Hemophilia B/diagnosis*
  3. Disease and treatment burden of patients with haemophilia entering the explorer6 non-interventional study
    Windyga J, Apte S, Frei-Jones M, Fujii T, Lyu CJ, Villarreal Martinez L, et al.
    Eur J Haematol, 2024 Nov;113(5):631-640.
    PMID: 39030946 DOI: 10.1111/ejh.14277
    OBJECTIVES: We aimed to characterise baseline disease and treatment burden in a large population with haemophilia A/B, both with (HAwI/HBwI) and without (HA/HB) inhibitors.

    METHODS: The prospective, non-interventional explorer6 study included patients ≥12 years old with severe HA, severe/moderate HB or HAwI/HBwI of any severity, treated according to local standard of care (excluding previous/current exposure to concizumab or emicizumab). Baseline characteristics and historical clinical data were collected and patient-reported outcomes, including treatment burden, were assessed.

    RESULTS: The explorer6 study enrolled 231 patients with haemophilia (84 HAwI/HBwI) from 33 countries. At baseline, patients with HA/HB treated with prophylaxis had the lowest median annualised bleeding rates (ABRs; 2.0), irrespective of haemophilia type; of these patients, 27.5% (HA) and 31.4% (HB) had target joints. Patients with HAwI/HBwI treated episodically reported the highest treatment burden. Of these patients, 28.5% (HAwI) and 25.1% (HBwI) performed sports activities in the month before screening.

    CONCLUSION: Despite receiving routine clinical care, historical and baseline information from patients enrolled in explorer6 showed that patients with HA/HB treated episodically and patients with HAwI/HBwI had higher ABRs, higher treatment burden and participated in sports less than those with HA/HB treated with prophylaxis. Emerging treatments could be beneficial in addressing these unmet medical needs.

    Matched MeSH terms: Hemophilia B/diagnosis
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