Table 1. Clinical characteristics of... | American Society of Hematology

Table 1.

Clinical characteristics of patients with IBMFS who had PNH clones

Diagnosis	Age (y)	Sex	Family history	Physical anomaly	PNH clone (%)		Chromosome fragility test	TL (SD)	Gene	Nucleotide change	Amino acid change	Zygosity
Diagnosis	Age (y)	Sex	Family history	Physical anomaly	Granulocytes†	Erythrocytes‡	Chromosome fragility test	TL (SD)	Gene	Nucleotide change	Amino acid change	Zygosity
FA	10	M	—	—	0.065	0.007	+	–1.84	FANCA	c.2546delC	p.S849fs*40	Homo
FA	13	M	—	+	0.039	0.010	+	0.83	FANCA	c.2470T>C	p.C824R	Hetero
									FANCA	c.1418T>C	p.L473P	Hetero
FA	6	F	+	+	0.041	0.033	+	–0.26	FANCA	c.2470T>C	p.C824R	Hemi
			+	+					FANCA	Deletion	—
FA	5	F	+	+	0.025	0.004	+	–3.58	FABCG	c.1066C>T	p.Q356X	Hetero
									FABCG	c.194delC	p.65fs*7	Hetero
FA	2	M	—	—	0.032	0.009	+	2.05	FANCG	c.307 + 1G>C	—	Homo
DC	2	F	—	+	0.099	0.008	—	0.83	TINF2	c.845G>A	p.R282H	Hetero
DC	1	F	—	+	0.231	0.014	—	–5.73	TINF2	c.845G>A	p.R282H	Hetero
DC	11	F	—	+	0.061	0.002	ND	–3.55	TINF2	c.845G>A	p.R282H	Hetero
SDS	6	M	—	+	0.020	0.015	—	–1.99	SBDS	c.184A>T	p.K62X	Hetero
									SBDS	c.258 + 2T>C	—	Hetero

Diagnosis	Age (y)	Sex	Family history	Physical anomaly	PNH clone (%)		Chromosome fragility test	TL (SD)	Gene	Nucleotide change	Amino acid change	Zygosity
Diagnosis	Age (y)	Sex	Family history	Physical anomaly	Granulocytes†	Erythrocytes‡	Chromosome fragility test	TL (SD)	Gene	Nucleotide change	Amino acid change	Zygosity
FA	10	M	—	—	0.065	0.007	+	–1.84	FANCA	c.2546delC	p.S849fs*40	Homo
FA	13	M	—	+	0.039	0.010	+	0.83	FANCA	c.2470T>C	p.C824R	Hetero
									FANCA	c.1418T>C	p.L473P	Hetero
FA	6	F	+	+	0.041	0.033	+	–0.26	FANCA	c.2470T>C	p.C824R	Hemi
			+	+					FANCA	Deletion	—
FA	5	F	+	+	0.025	0.004	+	–3.58	FABCG	c.1066C>T	p.Q356X	Hetero
									FABCG	c.194delC	p.65fs*7	Hetero
FA	2	M	—	—	0.032	0.009	+	2.05	FANCG	c.307 + 1G>C	—	Homo
DC	2	F	—	+	0.099	0.008	—	0.83	TINF2	c.845G>A	p.R282H	Hetero
DC	1	F	—	+	0.231	0.014	—	–5.73	TINF2	c.845G>A	p.R282H	Hetero
DC	11	F	—	+	0.061	0.002	ND	–3.55	TINF2	c.845G>A	p.R282H	Hetero
SDS	6	M	—	+	0.020	0.015	—	–1.99	SBDS	c.184A>T	p.K62X	Hetero
									SBDS	c.258 + 2T>C	—	Hetero

DC, dyskeratosis congenita; F, female; FA, Fanconi anemia; Hemi, hemizygous; Hetero, heterozygous; Homo, homozygous; M, male; ND, not described; SD, standard deviation; SDS, Shwachman-Diamond syndrome; TL, telomere length.

†

CD11b⁺CD55^–CD39⁺.

‡

Glycophorin A+ CD55^–CD59^–.

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