A Rare Case of Bleeding Disorder: Glanzmann’s Thrombasthenia

Glanzmann’s thrombasthenia is an extremely rare autosomal recessive inherited bleeding disorder characterized by defective platelet aggregation leading to prolonged bleeding time. Patients may present with easy bruising, purpura, epistaxis, menorrhagia and gingival bleeding. Though the disease is rare, the prognosis is usually excellent with supportive care. Here, we report the case of Glanzmann’s thrombasthenia in a young female who presented with complaints of epistaxis and a history of easy bruising. The patient improved with symptomatic and supportive care. The patient got discharged and is doing well under regular follow-up.

A Novel Homozygous Frameshift Mutation in ITGB3 Causes Glanzmann’s Thrombasthenia

The objective of this study was to elucidate the molecular characteristics of a Chinese family with Glanzmann’s thrombasthenia (GT). The proband was diagnosed with GT based on clinical manifestations, platelet aggregation, and the expression of CD41 and CD61 in platelets. Whole-exome and Sanger sequencing were used to detect genetic defects related to GT in the proband and the family of the pedigree. Whole-exome sequencing showed a c.1784–1802delinsGTCACA, p. S595Cfs*70 homozygous mutation in exon 11 of the ITGB3 gene in the proband. Heterozygous mutations were found in the proband’s parents, grandmother, uncle, aunt, and younger brother. This novel p. S595Cfs*70 ITGB3 gene mutation is not present in the 1000 Genomes and ExAC databases.

Glanzmann's Thrombasthenia: A rare platelet functional disorder

Glanzmann's Thrombasthenia (GT) is a rare inherited autosomal recessive platelet functional disorder. Due to the deficiency of platelet function, it manifests as a bleeding disorder characterized by mucocutaneous hemorrhage of varying severity. It is difficult to diagnose as it closely mimics with others bleeding disorder, so it can be diagnosed after investigations & exclusion of others. Treatment is supportive care with platelet transfusion & proper counseling. With careful supportive care, GT has a very good prognosis. In this report, we describe a 13 years old female with Glanzmann Thrombasthenia. Faridpur Med. Coll. J. 2020;15(2): 103-105

Type-1 Glanzmann’s thrombasthenia: a rare cause of epistaxis in a child

Glanzmann’s thrombasthenia (GT) is a rare genetic platelet surface disorder of glycoprotein IIb/IIIa receptor presenting with muco-cutaneous bleeding of varying severity. We are reporting an unusual case of a child presenting with recurrent epistaxis with prolonged bleeding time, moderate thrombocytopenia and giant platelet size. GT was suspected because the platelet aggregation was abnormal with adenosine diphosphate, epinephrine, collagen, and thrombin; but normal with ristocetin. Diagnosis was confirmed by flow cytometry which showed deficiency of platelet membrane receptors CD 41 (Gp IIb) and CD 61 (GpIIIa) with normal expression of CD 42b (GpIb). Platelets transfusions and antifibrinolytics were given to manage bleeding. Due to repeat platelets transfusions patients with GT can develop anti-platelet antibodies for which rFVIIa (recombinant activated factor VII) is effective. Definitive treatment includes stem cell transplant or gene therapy.

Intensive Care Management of a Parturient with Glanzmann’s Thrombasthenia: A Case Report

Twenty-nine years old primigravida with a diagnosis of type 1 Glanzmann’s thrombasthenia planned for labour induction was admitted to Intensive Care Unit for close observation, pain management and correction of any anticipated bleeding.