LONGITUDINAL STUDY OF DIAMOND-BLACKFAN ANEMIA WITH RPS19 MUTATION IN A WEST AFRICAN SETTING

Objective: To present a 16-year follow-up of the only documented case of Diamond-Blackfan anemia (DBA) diagnosed in Togo, supported by molecular biology findings. Observation: T.S., a male child born on September 5, 2006, has been followed since the age of three months for Diamond-Blackfan anemia. A mutation of the ribosomal protein RPS19 was identified in July 2010, representing the first molecularly confirmed case of DBA reported in Sub-Saharan Africa. Treatment consisted of regular red blood cell transfusions from December 2006 to December 2022, combined with iron chelation therapy using deferoxamine and an initial course of corticosteroid therapy (2 mg/kg/day). Corticotherapy was progressively reduced due to corticosteroid resistance from the fourth week and definitively discontinued after four months. Clinical evolution showed good staturo-ponderal growth. At the last follow-up on December 28, 2022, the patient weighed 53 kg and measured 160 cm. Monthly clinical examinations showed no signs of iron overload, and echocardiography performed on December 26, 2022, was normal. Hemoglobin levels remained stable around 50 g/L, maintained by transfusions every 4 to 6 weeks. Serum ferritin averaged 2,977.3 ng/mL (range: 1,817.1–4,448.5 ng/mL) during follow-up. Conclusion: Regular transfusions combined with careful monitoring of iron metabolism and iron chelation therapy allowed survival and acceptable quality of life for 16 years in a disease with unpredictable evolution.