Abstract

Introduction: Multisystemic involvement of inborn errors of metabolism (IEMs) makes treatment and follow-up of these diseases difficult. Haematological manifestations are significantly important for both treatment and follow-up processes of IEMs. This study evaluated haematological manifestations that may coexist with IEM disorders and affect the diagnosis process to raise awareness of IEMs coexisting with haematological findings.

Materials and Methods: In this study, medical records of 132 patients diagnosed with IEM were examined retrospectively, and the data of 43 patients with haematological findings at the time of diagnosis were evaluated. The information assessed included demographic findings, diagnosis, age at diagnosis, follow-up period, haematological manifestation, and coexisting findings.

Results: An evaluation of the haematological abnormalities at the time of diagnosis showed that of the 43 patients 15 (33.3%) had neutropenia, 3 (7.1%) had pancytopenia, 15 (34.3%) had iron deficiency anaemia (IDA), 15 (35.7%) had thrombocytopenia, 7 (16.6%) had coagulation abnormalities, 1 (2.3%) had hemolytic anaemia, 1 (2.3%) had hemophagocytic lymphohistiocytosis (HLH), and 7 (16.6%) had coagulation abnormalities. Overall, 15 (35.7%) patients had chronic anaemia.

Conclusion: The results show that hematologic abnormalities are very common features of IEM. The findings are valuable for raising awareness of hematologic manifestations in these disorders.

Keywords: Inborn Errors of Metabolism; Anemia; Neutropenia

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Citation

Citation: Melis Kose and Yeşim Oymak. “Haematological Manifestations of Inborn Errors of Metabolism". Acta Scientific Paediatrics 4.1 (2021): 02-05.

Copyright

Copyright: © 2021 Melis Kose and Yeşim Oymak. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.