A Rare Case of Congenital Methemoglobinemia with secondary polycythemia- Case Report and Literature Review

Tasneem Ara (1) , Qazi Smita Haque (2) , Salma Afrose (3)
(1) , Bangladesh
(2) , Bangladesh
(3) , Bangladesh

Abstract

Congenital heart diseases are common cause of congenital cyanosis with polycythaemia. Congenital methemoglobinemia is a rare cause of lifelong cyanosis with polycythemia. Congenital methemoglobinemia is caused either by enzyme deficiency or by an abnormal Hb (Hb M). Asymptomatic despite presence of severe cyanosis indicates this rare disorder. We are reporting a rare case of polycythemia with cyanosis due to congenital methemoglobinemia. The patient was referred to our centre and attended Hematology OPD (out-patient department) when his routine CBC revealed erythrocytosis. At that time, we found him severely cyanosed especially apparent on lips, tongue, hands and feet. He was diagnosed as a case of congenital methemoglobinemia with 38% blood methemoglobin level (normal value-0.00-2.00%). On view of life long persistent cyanosis, without any cardiopulmonary and neurological abnormality, consanguinity of parent’s marriage, dark colored blood with high methemoglobin level, a final diagnosis of Type I enzyme deficiency congenital methemoglobinemia was made. He was treated with oral ascorbic acid 250 mg twice daily. At follow up after 6 months his skin color improved and RBC count returned to normal. We are reporting this case of congenital methemoglobinemia for the first time in Bangladesh to emphasize the importance of this rare entity in the differential diagnosis of asymptomatic cyanosis with polycythemia.

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Authors

Tasneem Ara
tasneemara212@gmail.com (Primary Contact)
Qazi Smita Haque
Salma Afrose
Author Biographies

Tasneem Ara

Department of Haematology and BMT, Dhaka Medical College, Dhaka

Qazi Smita Haque

Department of Haematology, Apollo Hospital ltd, Dhaka

Salma Afrose

Department of Haematology and Transfusion Medicine, BIRDEM, Dhaka

1.
Ara T, Haque QS, Afrose S. A Rare Case of Congenital Methemoglobinemia with secondary polycythemia- Case Report and Literature Review. Haematol J Bangladesh [Internet]. 2020 May 24 [cited 2024 Mar. 28];3(1):20-3. Available from: https://journal.hematologybd.org/index.php/haematoljbd/article/view/30

Article Details

How to Cite

1.
Ara T, Haque QS, Afrose S. A Rare Case of Congenital Methemoglobinemia with secondary polycythemia- Case Report and Literature Review. Haematol J Bangladesh [Internet]. 2020 May 24 [cited 2024 Mar. 28];3(1):20-3. Available from: https://journal.hematologybd.org/index.php/haematoljbd/article/view/30