Aetiology of pancytopenia: Experience of a South African tertiary academic centre

Abstract

Background: Pancytopenia is a manifestation of numerous disease entities. The causes of pancytopenia differ with geographic region, socio-economic factors and HIV prevalence. Awareness of the common causes of pancytopenia may aid timely diagnosis.Objective: This study aimed to determine the aetiology of pancytopenia in a South African population.Methods: A retrospective observational study of adult patients presenting with pancytopenia at Tygerberg Academic Hospital, South Africa, from January 2016 to December 2017 was performed. Data on pancytopenia cases were obtained from the laboratory information system and utilised to determine the causes of pancytopenia.Results: A total of 673 cases of pancytopenia were identified. The most common causes of pancytopenia were chemoradiation therapy (25%), sepsis (18%), haematological malignancy (9%), advanced HIV (7%), and megaloblastic anaemia (6%). The diagnostic yield of bone marrow examinations (BME) was 57% (n = 52/91). The aetiology of pancytopenia differed according to age, with malignancy being a more common cause of pancytopenia among the elderly.Conclusion: Several easily recognisable and treatable conditions can manifest as pancytopenia. Prompt management of such conditions, notably sepsis and megaloblastic anaemia, can result in the resolution of the cytopenias and negate the need for a BME. However, haematological malignancy and unexplained pancytopenia strongly rely on a BME to establish a diagnosis. Pancytopenia investigations, when guided by appropriate clinic-laboratory findings, can promptly identify the underlying aetiology, while also identifying cases where an expedited BME is required. This is valuable in resource-conscious medicine.

Peripheral‐blood cytopenia, an early indicator of inborn errors of immunity

“…Severe cytopenia was defined as; anaemia (haemoglobin) less than −2SD below age‐appropriate reference range, thrombocytopenia less than 100 × 10 9 /l, neutropenia less than 1.5 × 10 9 /l and lymphopenia less than 3 × 10 9 /l, persistent cytopenia lasting more than one month despite optimal management, unusual cytopenia with an otherwise unexplainable cause and recurrent or refractory cytopenia as persistent despite optimal management 16,18,27,28 . Pancytopenia was defined as absolute white cell count less than 4 × 10 9 /l, haemoglobin less than 100 g/l and thrombocytopenia less than 150 × 10 9 /l 29–31 …”

“…16,18,27,28 Pancytopenia was defined as absolute white cell count less than 4 × 10 9 /l, haemoglobin less than 100 g/l and thrombocytopenia less than 150 × 10 9 /l. [29][30][31]…”

Infection and myelodysplasia: A case report of GATA2 deficiency in a South African patient

“…Severe, persistent, unusual and/or recurrent mycobacterial infections as well as peripheral blood cytopenia, in the absence of secondary immunodeficiency, should raise concern for a possible inborn error of immunity (IEI) 2 . In addition, severe and/or persistent cytopenias in the absence of an identifiable cause is an important indication for bone marrow examination (BME) 1,3 …”

“…2 In addition, severe and/or persistent cytopenias in the absence of an identifiable cause is an important indication for bone marrow examination (BME). 1,3 In this case report we describe a patient with a history of disseminated non-tuberculous mycobacterial infection (NTM), lymphoedema, persistent cutaneous viral warts and pancytopenia, who was diagnosed with germline GATA2 deficiency.…”

Evaluation of pancytopenia based on bone marrow examination in adults in a tertiary care hospital in Islamabad.

“…It can be constitutional, resulting from an inherited genetic defect or can be acquired that can be due to immune related damage to stem cells or their surrounding microenvironment. 12,13 The presence of pancytopenia apart from chemotherapy or radiotherapy is a common https://doi.org/10.29309/TPMJ/2023.30.09.7575 Pancytopenia 2 diagnostic dilemma and a bone marrow aspiration biopsy is recommended. 14,15 Some of the important causes of pancytopenia includes aplastic anemia, cancers, autoimmune diseases, chemotherapy, infections, megaloblastic anemia, fanconi's anemia and many more.…”