Pure Red Cell Aplasia Encountered in a Tertiary Care Hematology Laboratory: A Series of Nine Distinctive Cases

Mansi Kala; Kunal Das; Avriti Baveja; Manish Raturi; Meghali Dhebane; Sohaib Ahmad; Mansi Mehrotra

doi:10.1055/s-0042-1757584

Journal of Laboratory Physicians, Table of Contents

CC BY-NC-ND 4.0 · J Lab Physicians 2023; 15(02): 316-320
DOI: 10.1055/s-0042-1757584

Case Series

Pure Red Cell Aplasia Encountered in a Tertiary Care Hematology Laboratory: A Series of Nine Distinctive Cases

Authors

Mansi Kala

¹Department of Pathology, Himalayan Institute of Medical Sciences, Swami Rama Himalayan University, Jolly Grant Dehradun, Uttarakhand, India
Kunal Das

²Division of Pediatric Oncology and Bone Marrow Transplantation, Department of Pediatrics, Himalayan Institute of Medical Sciences, Swami Rama Himalayan University, Dehradun, Uttarakhand, India
Avriti Baveja

³Division of Hemato-oncology and Bone Marrow Transplantation, Department of Medicine, Himalayan Institute of Medical Sciences, Swami Rama Himalayan University, Dehradun, Uttarakhand, India
Manish Raturi

⁴Department of Immunohematology and Blood Transfusion, Himalayan Institute of Medical Sciences, Swami Rama Himalayan University, Jolly Grant Dehradun, Uttarakhand, India
Meghali Dhebane

¹Department of Pathology, Himalayan Institute of Medical Sciences, Swami Rama Himalayan University, Jolly Grant Dehradun, Uttarakhand, India
Sohaib Ahmad

⁵Department of Medicine, Himalayan Institute of Medical Sciences, Swami Rama Himalayan University, Jolly Grant Dehradun, Uttarakhand, India
Mansi Mehrotra

¹Department of Pathology, Himalayan Institute of Medical Sciences, Swami Rama Himalayan University, Jolly Grant Dehradun, Uttarakhand, India

Abstract

Pure red cell aplasia (PRCA) is characterized by severe anemia with reticulocytopenia and bone marrow erythroblastopenia. The early erythroblasts are markedly decreased; however, in rare instances, they may be normal or raised in number. There are varied etiologies, namely congenital or acquired and primary or secondary. The congenital PRCA is known as “Diamond-Blackfan anemia.” Thymomas, autoimmune disease, lymphomas, infections, and drugs also may be familiar associates. However, the etiologies of PRCA are numerous, and many diseases/infections can be associated with PRCA. The diagnosis rests on clinical suspicion and appropriate laboratory workup. We evaluated nine cases of red cell aplasia, having severe anemia with reticulocytopenia. Nearly half of the cases showed adequate erythroid (> 5% of the differential count) but with a maturation arrest. The adequacy of the erythroid could confuse the hematologist and may even delay the diagnosis. Hence, it is empirical that PRCA could be considered a differential in every case of severe anemia with reticulocytopenia, even in the presence of adequate erythroid precursors in the bone marrow.

Keywords

Diamond-Blackfan anemia - red cell transfusion - erythroblasts - severe anemia

Full Text

References

References
1 Means Jr RT. Pure red cell aplasia. Hematology (Am Soc Hematol Educ Program) 2016; 2016 (01) 51-56
2 Engidaye G, Melku M, Enawgaw B. Diamond blackfan anemia: genetics, pathogenesis, diagnosis and treatment. EJIFCC 2019; 30 (01) 67-81
3 Alfaraj MM, Al Saeed HH. Pure red cell aplasia, a disease of a great diversity. J Appl Hematol 2020; 11: 1-6
4 Cazzola M. Myelodysplastic syndromes. N Engl J Med 2020; 383 (14) 1358-1374
5 Ruggero D, Shimamura A. Marrow failure: a window into ribosome biology. Blood 2014; 124 (18) 2784-2792
6 Cerchione C, Catalano L, Cerciello G. et al. Role of lenalidomide in the management of myelodysplastic syndromes with del(5q) associated with pure red cell aplasia (PRCA). Ann Hematol 2015; 94 (03) 531-534
7 Ide T, Sata M, Nouno R, Yamashita F, Nakano H, Tanikawa K. Clinical evaluation of four cases of acute viral hepatitis complicated by pure red cell aplasia. Am J Gastroenterol 1994; 89 (02) 257-262
8 Vlachaki E, Diamantidis MD, Klonizakis P, Haralambidou-Vranitsa S, Ioannidou-Papagiannaki E, Klonizakis I. Pure red cell aplasia and lymphoproliferative disorders: an infrequent association. ScientificWorldJournal 2012; 2012: 475313
9 Weerasinghe S, Karunathilake P, Ralapanawa U, Jayalath T, Abeygunawardena S, Rathnayaka M. Pure red cell aplasia secondary to rheumatoid arthritis: a case report. J Med Case Reports 2021; 15 (01) 578
10 Lesire B, Durieux V, Grigoriu B, Girard N, Berghmans T. Management of thymoma associated autoimmune pure red cell aplasia: case report and systematic review of the literature. Lung Cancer 2021; 157: 131-146
11 Balasubramanian SK, Sadaps M, Thota S. et al. Rational management approach to pure red cell aplasia. Haematologica 2018; 103 (02) 221-230
12 Sawada K, Fujishima N, Hirokawa M. Acquired pure red cell aplasia: updated review of treatment. Br J Haematol 2008; 142 (04) 505-514
13 Means Jr RT. Pure red cell aplasia. Blood 2016; 128 (21) 2504-2509
14 Srinivas U, Mahapatra M, Saxena R, Pati HP. Thirty-nine cases of pure red cell aplasia: a single center experience from India. Hematology 2007; 12 (03) 245-248
15 Mamiya S, Itoh T, Miura AB. Acquired pure red cell aplasia in Japan. Eur J Haematol 1997; 59 (04) 199-205
16 Charles RJ, Sabo KM, Kidd PG, Abkowitz JL. The pathophysiology of pure red cell aplasia: implications for therapy. Blood 1996; 87 (11) 4831-4838
17 Lacy MQ, Kurtin PJ, Tefferi A. Pure red cell aplasia: association with large granular lymphocyte leukemia and the prognostic value of cytogenetic abnormalities. Blood 1996; 87 (07) 3000-3006