Table 1 Polycythemias studied .... | American Society of Hematology

Table 1

Polycythemias studied

	Diagnosis	Gene mutations	Number of patients	Sensitivity of erythroid colonies to EPO
Primary polycythemias	PV	JAK2^V617F mutation	n = 6	Hypersensitive and EPO independent
	PFCP	EPOR^Q434X mutation*	n = 2	Hypersensitive and EPO independent
	PFCP	EPOR^5967insT mutation†	n = 2	Hypersensitive and EPO independent
Polycythemias with features of primary and secondary polycythemia	Congenital polycythemias due to VHL mutations	VHL^R200W mutation¹⁰ (Chuvash polycythemia)	n = 2	Hypersensitive
		VHL^P138L mutation¹⁶	n = 1	Hypersensitive
		VHL^T124A/L188V mutation¹⁷	n = 2	Hypersensitive
	Congenital polycythemias due to HIF2A mutation	HIF2A^M353V mutation¹⁸	n = 1	Hypersensitive
	Congenital polycythemias due to HIF2A mutation	HIF2A^G537R mutation¹⁸	n = 1	Hypersensitive
	Congenital polycythemia	LNK^I257T mutation‡	n = 1	Hypersensitive
Secondary polycythemias	Congenital polycythemia due to VHL mutation	VHL^H191D mutation¹⁹ (Croatian type)	n = 2	Normal
Secondary polycythemias	Secondary polycythemia due to hypoxia	Low pO₂	n = 6	Normal

	Diagnosis	Gene mutations	Number of patients	Sensitivity of erythroid colonies to EPO
Primary polycythemias	PV	JAK2^V617F mutation	n = 6	Hypersensitive and EPO independent
	PFCP	EPOR^Q434X mutation*	n = 2	Hypersensitive and EPO independent
	PFCP	EPOR^5967insT mutation†	n = 2	Hypersensitive and EPO independent
Polycythemias with features of primary and secondary polycythemia	Congenital polycythemias due to VHL mutations	VHL^R200W mutation¹⁰ (Chuvash polycythemia)	n = 2	Hypersensitive
		VHL^P138L mutation¹⁶	n = 1	Hypersensitive
		VHL^T124A/L188V mutation¹⁷	n = 2	Hypersensitive
	Congenital polycythemias due to HIF2A mutation	HIF2A^M353V mutation¹⁸	n = 1	Hypersensitive
	Congenital polycythemias due to HIF2A mutation	HIF2A^G537R mutation¹⁸	n = 1	Hypersensitive
	Congenital polycythemia	LNK^I257T mutation‡	n = 1	Hypersensitive
Secondary polycythemias	Congenital polycythemia due to VHL mutation	VHL^H191D mutation¹⁹ (Croatian type)	n = 2	Normal
Secondary polycythemias	Secondary polycythemia due to hypoxia	Low pO₂	n = 6	Normal

Two previously unreported subjects of European descent with PFCP due to the EPOR gain-of-function EPOR^Q434X mutation; this mutation was previously reported in a Japanese family.¹⁴

†

Two Czech patients whose phenotype was previously described.¹⁵

‡

A patient with no detectable EPOR, JAK2^V617F, or JAK2 exon 12 mutations and low level of EPO (<1 mU/mL) who was heterozygous for a single-nucleotide polymorphism in exon 3 (rs147341899) in the LNK gene.

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