Acta Scientific Paediatrics (ISSN: 2581-883X)

Research Article Volume 4 Issue 1

Haematological Manifestations of Inborn Errors of Metabolism

Melis Kose1* and Yeşim Oymak2

1Izmir Katip Çelebi University Medical Faculty, Department of Pediatrics, Division of Pediatric Metabolism and Nutrition, Izmir, Turkey
2University of Health Sciences, Behçet Uz Children Training and Research Hospital, Department of Pediatrics, Division of Hematology, Izmir, Turkey

*Corresponding Author: Melis Kose, Izmir Katip Çelebi University Medical Faculty, Department of Pediatrics, Division of Pediatric Metabolism and Nutrition, Izmir, Turkey.

Received: November 13, 2020; Published: December 10, 2020



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


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