Abstract
BACKGROUND: Glanzmann thrombasthenia (GT) is a rare disease with an autosomal recessive inheritance pattern. This disorder is not so uncommonly encountered in routine clinical practice and laboratory settings in Pakistan let alone in the rest of the world. To describe the bleeding phenotype of GT and treatment outcomes in over one hundred patients in north Pakistan. MATERIALS AND METHODS: This descriptive, cross-sectional, retrospective study was conducted on patients from 2011 to 2023 using a convenience sampling technique. A total of 103 patients of all ages and both genders diagnosed as having inherited GT were included in the study. RESULTS: The median age of the study population was 1.1 years, with an interquartile range (IQR) of 0.8-2. Out of the total, 55 (53%) patients were males and 48 (47%) patients were females. Ninety-eight percent of patients were diagnosed using light transmission aggregometry, and only two (2%) patients were diagnosed by immunophenotyping. Due to the high incidence of interfamily marriages, 86 (84%) patients were born to consanguineous marriages. Thirty-nine (38%) patients had an episode of major bleeding as defined by the International Society on Thrombosis and Haemostasis (ISTH) criteria. Epistaxis in 73 (71%) patients, skin bruising in 63 (61%), and gum bleeding in 57 (55%) were the most common bleeding symptoms. Thirty-two (31%) required the use of r-VIIa for major bleeding and five (5%) patients underwent fully matched allogeneic HSCT (hematopoietic stem cell transplant). Graft versus host disease-free relapse-free survival (GRFS) was 80%. CONCLUSION: GT is still an underrecognized and underdiagnosed disorder, particularly in resource-limited settings where the estimated incidence seems to be much higher than reported.