PubMed Central, : RMMJ Rambam Maimonides Medical Journal Rambam Health Care Campus 2021 July; 12(3): e0025. ISSN: 2076-9172Published online 2021 July 20. doi: 10.5041/RMMJ.10446

Year^REF	Pt#^*	Age (yr)	Sex	GD Dx; Genotype^†	HSM	Bone Dis	Anemia (Hb, g/dL)	J	HBR	Retic	Other Anemia-related Features	Ab	HA Tx	Outcome
Hemolytic Anemia of Unknown Type

1942²¹	1	41	M	GCs on spleen biopsy	Y	N	Y (~7.2 [45%])	Y	Y	Y	Myelogram characteristic of HA (active erythrogenesis)	n.a.	High caloric and vitamin diet, parenteral liver extract, iron, splenectomy	Improved

1946¹⁷	1	20	M	GCs on sternal puncture	N	Y	Y (12.5)	Y	Y	N	Abundant hemosiderin and active erythrophagia on sternal puncture	n.a.	n.a.	n.a.

1954²⁵	2	42	M	GCs on either sternal marrow aspiration, splenic puncture, splenic tissue exam after splenectomy, or necropsy	Y	N	Y (11.9)	n.a.	Y	Y	n.a.	n.a.	n.a.	n.a.
	3	41	F		Y	N	Y (8.5)	n.a.	N	Y	n.a.	n.a.	n.a.	n.a.
	4	42	F		Y	N	Y (11.9)	n.a.	Y	n.a.	n.a.	n.a.	n.a.	n.a.
	6	43	F		Y	N	Y (10.3)	n.a.	Y	Y	n.a.	n.a.	n.a.	n.a.
	11	14	M		Y	N	Y (8.7)	n.a.	Y	n.a.	n.a.	n.a.	n.a.	n.a.
	15	12	M		Y	N	Y (10.6)	n.a.	Y	n.a.	n.a.	n.a.	Splenectomy	Died
	17	26	F		Y	N	Y (5.8)	n.a.	N	Y	n.a.	n.a.	Splenectomy	Died
	20	39	F		Y	N	Y (10.5)	n.a.	Y	Y	n.a.	n.a.	Splenectomy	n.a.
	25	19	F		n.a.	N	Y (11.0)	n.a.	Y	Y	n.a.	n.a.	Splenectomy	n.a.
	26	20	F		Y	n.a.	Y (8.0)	n.a.	n.a.	Y	n.a.	n.a.	Splenectomy	n.a.

1960¹⁹	1	n.a.	n.a.	GCs on BM aspirate	n.a.	n.a.	Y (11.5)	n.a.	n.a.	Y	Mild erythrophagocytosis	n.a.	n.a.	n.a.

1968²⁶	2	29	M	GCs on liver biopsy and BM aspirate	Y	Y	Y (10.0)	N	Y	n.a.	Elevated urobilinogen	n.a.	n.a.	Died

2008²⁷	1	2.5	F	Low β-GCase activity; p.[Asn409Ser]; [Ser395Phe]	Y	Y	Y	n.a.	n.a.	n.a.	n.a.	n.a.	Splenectomy	Died

Autoimmune Hemolytic Anemia

1955²²	29	n.a.	n.a.	n.a.	n.a.	n.a.	Y	n.a.	n.a.	n.a.	n.a.	Auto-Ab present	Blood transfusions, splenectomy, ACTH, and cortisone	Died

1990¹⁰	1	23	F	Low β-GCase activity	Y	n.a.	Y (4.0)	Y	Y	Y	Low haptoglobin, elevated LDH	Coombs +	Blood transfusions, steroids	Improved and stabilized
1990¹⁰	2	n.a.	n.a.	n.a.	n.a.	n.a.	Y	n.a.	n.a.	n.a.	n.a.	Coombs +	n.a.	n.a.

1994³²	2	37	F	Low β-GCase activity; p.[Asn409Ser]; [recTL]	Y	N	Y	n.a.	n.a.	n.a.	n.a.	n.a.	Blood transfusions, splenectomy	Resolved

2002²⁹	1	n.a.	n.a.	n.a.	n.a.	n.a.	Y	n.a.	n.a.	n.a.	n.a.	n.a.	n.a.	n.a.
2002²⁹	2	n.a.	n.a.	n.a.	n.a.	n.a.	Y	n.a.	n.a.	n.a.	n.a.	n.a.	n.a.	n.a.

2008²⁷	2	11 mo	M	Low β-GCase activity; p.[Thr102del]; [Thr102del]	Y	n.a.	Y	n.a.	n.a.	n.a.	n.a.	Coombs +	n.a.	Died

2010³¹	1	n.a.	F	n.a.	n.a.	n.a.	Y	n.a.	n.a.	n.a.	n.a.	Coombs +	n.a.	n.a.

2014³⁰	1	n.a.	n.a.	n.a.	n.a.	n.a.	Y	n.a.	n.a.	n.a.	n.a.	n.a.	ERT	Died

Non-immune Hemolytic Anemia

1933²³	1	34	F	n.a.	Y	n.a.	Y (~4.0 [25%])	Y	Y	n.a.	Hemoglobinuria, nucleated RBCs, large pale cells and giant cells on spleen biopsy, bile pigment and salts intermittently present in urine	Negative auto-hemolysin	Blood transfusions, splenectomy	Improved

2021 This study	1	35	M	GCs on BM aspirate, low β-GCase activity; p.[Asn409Ser]; [Asn409Ser]	Y	Y	Y (9.7)	Y	Y	Y	Low haptoglobin, elevated LDH	Coombs-negative	SRT (eliglustat)	Full recovery

^*Pt# refers to the patient number as published in the original manuscript (when available).

^†Genotype according to new nomenclature (GBA NM_000157.4).

+, positive; Ab, antibodies; ACTH, adrenocorticotropic hormone; BM, bone marrow; Dx, diagnosis; ERT, enzyme replacement therapy; Dis, disease; F, female; GCs, Gaucher cells; GCase, glucocerebrosidase; GD, Gaucher disease; HA, hemolytic anemia; Hb, hemo-globin; HBR, hyperbilirubinemia; HSM, hepatospleno-megaly; J, jaundice; LDH, lactase dehydrogenase; M, male; mo, months; N, no; n.a., not available; RBCs, red blood cells; REF, reference; Retic, reticulocytosis; SRT, substrate reduction therapy; Tx, treatment; Y, yes; yr, years.