Critical Diamond-Blackfan anemia due to ribosomal protein S19 missense mutation.

Diamond-Blackfan anemia (DBA) is a rare congenital disorder characterized by pure erythrocyte aplasia, and approximately 70% of patients carry mutations in the genes encoding ribosomal proteins (RP). Here, we report the case of a male infant with DBA who presented with anemic crisis (hemoglobin [Hb] concentration 1.5 g/dL) at 58 days after birth. On admission, the infant was pale and had tachypnea, but recovered with intensive care, including red blood cell transfusions, and prednisolone. Based on the clinical diagnosis of DBA, the father of the infant had cyclosporine-A-dependent anemia. On analysis of RP genes when the infant was 6 months old, both the infant and the father, but not the mother, were found to harbor a mutation of RPS19 (c.167G > C, p. R56P). Therefore, genetic background search and early neonatal health check-ups are recommended for families with a history of inherited bone marrow failure syndromes.

Methylene blue for hemolytic crisis in patients with met-hemoglobinemia secondary to hemoglobin volga: A case series.

There is a rare subset of patients with a genetically abnormal hemoglobin structure initially discovered in the Volga region of Europe known as Volga anemia. Key features of this condition include compromised delivery of oxygen to peripheral tissues and altered red blood cells that have a higher likelihood of being broken down or hemolyzed, which can lead to significant hemolytic anemia. Methylene blue is a dye that acts as a reducing agent of oxygen and is commonly used in toxic states that lead to methemoglobin build-up. This paper explores the pathophysiology of this genetic condition and documents three cases across two patients-a father and son-when methylene blue was used during an anemic crisis.