Research Article: Multicenter Study of Diagnostic Tool for Patients with Hemophilia: From Bedside to Comprehensive Investigations
Abstract:
Hemophilia is a hereditary bleeding disorder found in . cases of , males at birth and is inherited by a sex-linked recessive pattern and found among males, while females are carriers. However, % of patients were sporadic cases where the origin of mutations were found in the last two generations of mother and grandmother in of studied families (.%). Most carrier mothers had a de novo mutation on the X-chromosome of paternal origin. Moreover, inversion of intron has been commonly found in patients with severe hemophilia A., Patients with hemophilia often present bleeding in the muscles and joints, inducing severe pain. Cases of inadequate replacement therapy of factor VIII or IX concentrates result in deformities of the musculoskeletal system and patients can even succumb to excessive bleeding in the vital organs and central nervous system during childhood and seldom reach adulthood. The specific investigation cannot be performed in most laboratories in economically less-developed countries. As a consequence of delayed diagnosis, patients with hemophilia face unfavorable outcomes from avoidable complications. However, the existing health-care system in Thailand involving health stations and district hospitals, provincial hospitals, regional hospitals, and university hospitals act as primary, secondary, tertiary, and comprehensive care centers, respectively. The tertiary and comprehensive care centers already have the capacity of diagnosing hemophilia, while it remains challenging to establish access to hemophilia diagnosis at the primary and secondary care centers.
Introduction:
Hemophilia is a hereditary bleeding disorder found in . cases of , males at birth and is inherited by a sex-linked recessive pattern and found among males, while females are carriers. However, % of patients were sporadic cases where the origin of mutations were found in the last two generations of mother and grandmother in of studied families (.%). Most carrier mothers had a de novo mutation on the X-chromosome of paternal origin. Moreover, inversion of intron has been commonly found in patients with severe…
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