Table 1.

Summary of Published Gaucher Disease Patients with Hemolytic Anemia

YearREF 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
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.
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.

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