[The 511th case: severe anemia with increased ringed sideroblasts].

Area of Science:

• Hematology
• Internal Medicine
• Toxicology

Background:

• Sideroblastic anemia (SA) is a group of disorders characterized by ineffective erythropoiesis and iron accumulation in erythroid precursors.
• Myelodysplastic syndromes with ring sideroblasts (MDS-RS) are a common cause of SA, often associated with somatic mutations like SF3B1.
• Alcohol abuse is a recognized, yet sometimes overlooked, reversible cause of SA.

Purpose of the Study:

• To report a case of severe anemia initially diagnosed as MDS-RS that was ultimately attributed to alcohol-induced SA.
• To highlight the importance of a thorough patient history, including alcohol consumption, in diagnosing SA.
• To discuss the diagnostic challenges and treatment implications in cases of non-clonal SA.

Main Methods:

• Comprehensive diagnostic workup including bone marrow morphology, SF3B1 genetic testing, iron metabolism studies, and liver MRI.
• Initial treatment with luspatercept for presumed MDS-RS.
• Subsequent vitamin B6 therapy upon identification of heavy alcohol consumption history.
• Monitoring of hemoglobin levels and clinical response.

Main Results:

• The patient presented with severe anemia (HGB 35 g/L) and 24% ring sideroblasts, initially treated as MDS-RS with luspatercept.
• Relapse occurred after 10 months of luspatercept. Retrospective history revealed heavy alcohol consumption.
• Vitamin B6 therapy led to rapid and sustained hemoglobin increase (85 g/L in 10 days, 134 g/L in 1 month), confirming alcohol-induced SA.
• Liver MRI showed significant iron overload (T2* 1.1 ms).

Conclusions:

• In sideroblastic anemia lacking clonal evidence, reversible causes like alcoholism must be excluded before attributing to MDS.
• Luspatercept showed transient efficacy but may mask the underlying etiology in non-clonal SA.
• Alcoholic SA requires careful monitoring for iron overload and timely iron chelation therapy to prevent hepatic complications.