Translation, validation and reliability of the functional capacity questionnaire Haemophilia Activities List for haemophilia patients in Brazil.

INTRODUCTION: To date, none of the available assessment instruments to evaluate functional abilities for individuals with haemophilia has been translated and validated in Brazil. AIM: To translate, and test the construct validity, internal consistency and the reliability of the Haemophilia Activities List (HAL) for the Brazilian population with severe and moderate haemophilia (type A or B) and to investigate differences in the self-perception of functional abilities in patients adults with haemophilia classified according to the presence of joint bleeding and the performance of orthopaedic surgeries. METHODS: The translation and transcultural adaptation following the steps: (a) translation; (b) synthesis (consensual version); (c) back-translation; (d) review by the committee of experts; (e) pretest in the target population; and (f) final version of the instrument. Correlations between HAL scores and the scores of the Health Assessment Questionnaire (HAQ) and Western Ontario and McMaster Universities Osteoarthritis Index (WOMAC) were determined for construct validation. Reliability was tested using the test and retest method, and internal consistency was calculated by Cronbach's α. RESULTS: The HAL-BR was applied to 52 individuals with haemophilia (34.51 ± 12.87 years). The process of translation and cross-cultural adaptation produced similar versions between the translations A moderate correlation was observed between HAL and the HAQ (r = -0.55) and WOMAC scores (r = -0.58). The reliability was ICC = 0.972, CI (0.917-0.997) ICC = 0.876, CI (0.631-0.978) for inter- and intra-examiners. No difference was found in the total HAL score between the groups with and without bleeding. The group subjected to surgery compared to the group of not subjected to surgery presented in the HAL domains worse function in 'lying down/sitting/kneeling/standing', 'self-care' and 'complex lower extremities activities' as well as in total HAL score. CONCLUSION: The Brazilian version of the HAL was proven to be a valid and reliable evaluation tool for adults with haemophilia in Brazil.

Eleven novel mutations in the factor VIII gene from Brazilian hemophilia A patients.

The molecular characterization of the mutations in hemophilia A patients is hampered by the large size of the factor VIII gene and the great heterogeneity of mutations. In this study, we have performed a protocol involving multiplex polymerase chain reaction in which 19 exons were amplified in four different combinations followed by nonradioactive single-strand conformational polymorphism (SSCP) to screen for mutations. Southern blotting was used to detect inversion of the factor VIII gene resulting from recombination between copies of the gene A (F8A) located in intron 22 of the factor VIII gene and two copies close telomeric region of X chromosome. Forty-two hemophilia A patients (21 with severe and 21 with mild-to-moderate disease) were studied. The inversion of factor VIII occurred in 13 of 21 patients affected by severe hemophilia A. One patient showed a large extra band in addition to the three bands observed after Southern blotting with the F8A probe. An abnormal electrophoretic pattern of SSCP was detected in 85% and 50% of the patients affected by mild-to-moderate and severe disease, respectively. Sixteen different mutations were identified. Eleven mutations were novel and comprised 9 point mutations and 2 small deletions. This study shows that the methodology used is safe and rapid and has potential for detecting almost all of the genetic defects of the studied hemophilia A patients.

Ethnic polymorphism of DXS52 (St 14) locus linked to coagulation factor VIII gene in Argentina.

Sixty-five individuals belonging to 16 argentinian families of hemophilia A were studied using the St 14 probe (DXS52 locus). This probe is widely used for carrier detection and prenatal diagnosis, despite the risk of recombination between the factor VIII gene and the DXS52 locus, because of its high informativity. The families are divided in two groups: one group constituted only of metis of Indians according to interview and morphotype and a second group of caucasoids (Spanish essentially and Italian). In this study we have shown some ethnic variations of the TaqI RFLPs in the DXS52 locus. In the allelic system I, (which alleles are numbered from 1 to 8) we have noted an over representation of the larger alleles (2 and 3) and of the allele 8 in both Argentinian groups when compared to the caucasian population already studied in our laboratory. The additional polymorphic TaqI site giving the beta band in the system II (alpha and beta bands) is found more frequently in the Argentinian families than in Caucasians. Some other additional polymorphic sites have been found in generally constant bands giving additional allelic systems, in metis families.

Haemophilia in Jamaica

Comment is made of the few cases of haemophilia reported among mixed and coloured populations, and the literature relevant to this is briefly surveyed. A brief account is given of the history of haemophilia and its recent separation from other coagulation defects. The main theories of blood coagulation are briefly presented. Three cases of haemophilia occurring in Jamaicans of predominantly Negro ancestry are presented with clinical and haematological data. Investigations with the thromboblastin generation test leave no doubt that these are bona fide haemophiliacs. Certain points in connection with the diagnosis, prognosis and treatment of haemophilia are discussed. Despite the few case4s of haemophilia described in coloured populations, it is felt that the incidence of the disease in these racial groups is much higher than had been thought. Once medical facilities become more widely available in underdeveloped territories the incidence of haemophilia will probably be found to be equal or nearly equal to that found among the Teutonic races of Europe and America. (AU)