Ringed sideroblasts in β‐thalassemia

Abstract

Symptomatic β-thalassemia is one of the globally most common inherited disorders. The initial clinical presentation is variable. Whereas common hematological analyses are typically sufficient to diagnose the disease, sometimes the diagnosis can be more challenging. We describe a series of patients with β-thalassemia whose diagnosis was delayed, required bone marrow examination in one affected member of each family, and revealed ringed sideroblasts, highlighting the association of this morphological finding with these disorders. Thus, in the absence of characteristic congenital sideroblastic mutations or causes of acquired sideroblastic anemia, the presence of ringed sideroblasts should raise the suspicion of β-thalassemia.

“Double‐hit” ineffective erythropoiesis—concurrent β‐thalassemia with α‐gene triplication and myelodysplastic syndrome with SF3B1 mutation

“…To date, such an association has only been reported in one case series of seven patients with β-thalassemia. 7 Reportedly, all patients in the series had more severe anemia than expected for the β-thalassemia trait. Bone marrow biopsies were therefore performed to evaluate for anemia.…”

“…Given the patient's history of hemoglobinopathy, a possible connection between ring sideroblasts and thalassemia was explored. To date, such an association has only been reported in one case series of seven patients with β‐thalassemia 7 . Reportedly, all patients in the series had more severe anemia than expected for the β‐thalassemia trait.…”

When Ring Sideroblasts on Bone Marrow Smears Are Inconsistent with the Diagnosis of Myelodysplastic Neoplasms

“…Special attention should be paid to patients with beta-thalassemia major, who also present with microcytic anemia, a hemolytic component, and the presence of a variable proportion of RS. On bone marrow smears, the presence of acidophilic erythroblasts with an area of hemoglobin condensation and precipitates of unpaired globin chains that appear as large dark granules is identified [ 21 ]. This appearance allows differential diagnosis with congenital sideroblastic anemias due to abnormalities in heme synthesis ( Figure 2 ).…”