Turk J Hematol. 2024; 41(4): 281-282 | DOI: 10.4274/tjh.galenos.2024.2024.0232
Unmasking Congenital Methemoglobinemia: A Novel CYB5R Mutation Discovered in an Adult with Symptomatic Polycythemia
Amiya Ranjan Nayak, Pratyusha Gudapati, Swapnil Tripathi, Jasmita Dass, Pradeep Kumar, Mukul AggarwalAll India Institute of Medical Sciences, Department of Hematology, New Delhi, India
Keywords: Congenital methemoglobinemia, CYB5R, Polycythemia, Saturation gap
Doğuştan Methemoglobinemiyi Açığa Çıkarmak: Semptomatik Polisitemisi Olan Bir Yetişkinde Keşfedilen Yeni Bir CYB5R Mutasyonu
Amiya Ranjan Nayak, Pratyusha Gudapati, Swapnil Tripathi, Jasmita Dass, Pradeep Kumar, Mukul AggarwalAll India Institute of Medical Sciences, Department of Hematology, New Delhi, India
Anahtar Kelimeler: Doğuştan methemoglobinemi, CYB5R, Polisitemi, Satürasyon farkı
Corresponding Author: Amiya Ranjan Nayak
Manuscript Language: English