Joint health scores in a haemophilia A cohort from Pakistan with minimal or no access to factor VIII concentrate: correlation with thrombin generation and underlying mutation

Abstract

Haemophilia A is associated with recurrent joint bleeding which leads to synovitis and debilitating arthropathy. Coagulation factor VIII level is an important determinant of bleed number and development of arthropathy . The aim of this study was to compare the haemophilia joint health score (HJHS) and Gilbert score with severity, age, thrombin generation (TG) and underlying mutation in a haemophilia A cohort which had minimal access to haemostatic replacement therapy. Ninety-two haemophilia A individuals were recruited from Pakistan. Age, age at first bleed, target joints, haemophilic arthropathy joints, HJHS and Gilbert score were recorded. A strong correlation was found between HJHS and Gilbert score (r = 0.98), both were significantly higher in severe (n = 59) compared with non-severe (n = 29) individuals before the age of 12 years (P ≤ 0.01) but not thereafter. When individuals were divided according to developmental age (<12 years, 12-16 years and >16 years), both HJHS and Gilbert score were significantly lower in the youngest group (P ≤ 0.001), there was no difference between 12-16 years and >16 years. In severe individuals there was no correlation between in vitro TG and joint score, whereas in non-severe individuals there was a weak negative correlation. In the severe group, no significant difference was observed for either joint score according to the underlying mutation type (inversion, missense, nonsense, frameshift). In this cohort of haemophilia A individuals with minimal access to haemostatic treatment, haemophilic arthropathy correlated with severity and age; among severe individuals, joint health scores did not relate to either the underlying mutation or in vitro TG.

A comprehensive study of current haemophilia care and outcomes in Singapore

“…This compares to our average scores of 5.25 and 5.55 respectively. Higher scores were reported in a Pakistani study where patients were also not on prophylaxis [8]. Our findings suggest that our children's joint health is closer to those in developed countries which may be due to the incremental use of prophylaxis.…”

Clinical and ultrasound joint outcomes in severe hemophilia A children receiving episodic treatment in Indonesian National Hemophilia Treatment Center

“…However, earlier studies showed that this measurement also applicable for episodically treated patients. 15,16 Study in Lithuania 16 reported HJHS in 20 hemophilia children receiving episodic treatment, mean total scores in patients aged 4-9 years was significantly lower compare to older children aged 10-17 years (11.6 vs 31.5, respectively). Study in Pakistan 15 on severe (n=59) and non-severe (n=29) hemophilic patients receiving episodic treatment divided into three developmental age groups (<12 years, 12-16 years, and >16 years), the HJHS and Gilbert scores were significantly lower in the youngest group (p<0.001).…”

Using routine Haemophilia Joint Health Score for international comparisons of haemophilia outcome: standardization is needed

“…Whereas the HJHS is increasingly used in single centre reports of outcome [3,[6][7][8][9][10][11], it has only been used in two international comparative studies, in which HJHS physiotherapists joined a standardization session before starting [12] or HJHS was scored by a single observer [5].…”