A case of congenital methaemoglobinaemia with secondary polycythemia | [Journal of Pakistan Medical Association • 2022]

Author(s):

1. Afshan Bibi: Department of Chemical Pathology, Armed Forces Institute of Pathology, Rawalpindi, Pakistan

2. Muhammad Usman Munir: Department of Chemical Pathology and Endocrinology, Armed Forces Institute of Pathology,Rawalpindi,Pakistan

3. Zujaja Haroon: Department of Chemical Pathology and Endocrinology, Armed Forces Institute of Pathology,Rawalpindi,Pakistan

4. Sobia Irum: Department of Chemical Pathology, Armed Forces Institute of Pathology, Rawalpindi, Pakistan

5. Muhammad Aamir: Department of Chemical Pathology and Endocrinology, Armed Forces Institute of Pathology,Rawalpindi,Pakistan

6. Shamsa Kanwal: Department of Chemical Pathology, Armed Forces Institute of Pathology, Rawalpindi, Pakistan

Abstract:

Haemoglobin contains iron in a ferrous form. When the iron is oxidized, it is called Methaemoglobin (MetHb). MetHb leads to tissue hypoxia, cyanosis, and secondary polycythemia. Methaemoglobinaemia is acquired or congenital. In this case, a 22-years-old male patient presented with cyanosis, headache, and lack of concentration. Cyanosis was present since birth. His previous investigations showed polycythemia. He was misdiagnosed on multiple occasions and was undergoing venesections for polycythemia. On evaluation at a private clinic, an Oxygen saturation gap was noted between the results of the pulse oximeter and arterial blood gas analyzer. This raised suspicion on the presence of MetHb. He was referred to Armed Forces Institute of Pathology, Rawalpindi for further workup.The sample obtained for MetHb was chocolate brown in colour. Analysis was done via co-oximetry. A high level of MetHb (45.6%) was obtained. All other radiological and haematological investigations were in the normal range. On the basis of history, clinical presentation, and investigations, he was diagnosed as a case of congenital methaemoglobinaemia with secondary polycythemia.

Page(s): 1218-1221

DOI: DOI not available

Published: Journal: Journal of Pakistan Medical Association, Volume: 72, Issue: 6, Year: 2022

Keywords:

Methemoglobinemia , Cyanosis , CO oximetry

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