Figure 2.
Utility of telomere length testing in the diagnosis of hypocellular marrow failure. The red circles denote patients with bone marrow failure secondary to a genetically confirmed diagnosis of a short telomere syndrome. The blue circles denote patients with presumed idiopathic acquired aplastic anemia based on response to treatment with IST. The green circles denote patients with bone marrow failure due to an underlying genetically confirmed inherited bone marrow failure syndrome apart from a short telomere syndrome (LIG4,RUNX1,GATA2). The black circles denote patients diagnosed with a short telomere syndrome at >40 years of age. BMF, bone marrow failure. Based on data from Alder et al.21