Fanconi and Glanzmann: the men and their works

Glanzmann's thrombasthenia: pathogenesis, diagnosis, and current and emerging treatment options

“…In contrast, a mutation in β3 Leu196Pro is able to sustain partial clot retraction. 2 , 6 A review by Nurden et al more closely examined the β-propeller ectodomain mutations of the αIIb subunit. Nurden et al concluded that a large series of mutations affecting the β-propeller domain interrupted calcium binding and had numerous deleterious effects on αIIbβ3 expression and function, giving rise to the different types of GT.…”

“…Epistaxis is one of the most common bleeding manifestations in patients with GT. 1 , 2 , 5 Patients may respond to compression, topical thrombin, anti-fibrinolytics, nasal packing, or a combination of these, but these methods are not always effective. 12 A retrospective study comparing different methods used to control local nasal hemorrhage in children with GT found that the use of anterior and posterior packing only, without adjunctive prothrombotic agents, was at least as effective as the same procedure with the use of a prothrombotic agent.…”

Fanconi anaemia and leukaemia – clinical and molecular aspects

“…Clinically, FA is a highly heterogeneous condition characterized by a wide variety of congenital abnormalities, a propensity to develop bone marrow failure and an increased incidence of solid tumours with young age of onset. FA was first described in 1927 (Stevens & Meyer, 2002) and since then over 1300 cases have been reported (Alter, 2003), enabling the disease to be clearly defined. FA cells are characterized by chromosomal hypersensitivity to DNA cross‐linking agents such as mitomycin C (MMC) (German et al , 1987) or diepoxybutane (DEB) (Auerbach, 1988) and the resulting increase in chromosome breakage provides the basis for a diagnostic test (Auerbach, 1993).…”

How we treat the platelet glycoprotein defects; Glanzmann thrombasthenia and Bernard Soulier syndrome in children and adults

“…In 1918 Eduard Glanzmann described a bleeding disorder “Hereditare Hamorrhagische Thrombasthenia” characterised not by a reduction in platelet numbers but by a functional disorder that Glanzmann diagnosed by finding a slow or absent clot retraction and a prolonged bleeding time (BT) (Stevens & Meyer, ). Glanzmann thrombasthenia (GT) is inherited in a recessive manner with an incidence of 1 per million but this increases to 1 in 200 000 in areas of high consanguinity.…”

“…Thirty years later, Bernard and Soulier () described a bleeding disorder characterised by a prolonged bleeding time and the presence of a macro‐thrombocytopenia. The male index case described by Bernard and Soulier suffered repeated bleeds throughout his life and died when aged 28 years of a brain haemorrhage following a fight in a bar (Lopez et al , ; Stevens & Meyer, ).…”