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Red blood cells  (RBCs) transport oxygen to all body tissues. These cells survive only for 120 days and then need to be replenished. Erythropoiesis is the process of RBC production. In healthy individuals, erythropoiesis ensures all tissues are amply supplied with oxygen. In addition, blood loss due to injury leads to a drop in the physiological oxygen level that will cause erythropoiesis. Any defect in erythropoiesis leads to several physiological disorders, including thalassemia, anemia,...
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Ringed sideroblasts in β-thalassemia.

Kim Cattivelli1,2, Dean R Campagna3, Klaus Schmitz-Abe4

  • 1Pediatrics Clinic, University of Brescia, Spedali Civili di Brescia, Italy.

Pediatric Blood & Cancer
|November 4, 2016
PubMed
Summary
This summary is machine-generated.

Symptomatic beta-thalassemia, a common inherited blood disorder, can present variably. Ringed sideroblasts in bone marrow may indicate beta-thalassemia when other causes are ruled out.

Keywords:
ringed sideroblastssideroblastic anemiathalassemia

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Area of Science:

  • Hematology
  • Genetics
  • Pathology

Background:

  • Symptomatic beta-thalassemia is a prevalent inherited blood disorder with diverse clinical presentations.
  • Standard hematological analyses usually suffice for diagnosis, but challenging cases exist.

Purpose of the Study:

  • To highlight the diagnostic utility of ringed sideroblasts in challenging beta-thalassemia cases.
  • To emphasize the association between ringed sideroblasts and beta-thalassemia.

Main Methods:

  • Case series description of patients with delayed beta-thalassemia diagnosis.
  • Bone marrow examination in affected individuals.

Main Results:

  • Bone marrow examination revealed ringed sideroblasts in patients with beta-thalassemia.
  • This finding was noted in families where diagnosis was delayed.

Conclusions:

  • Ringed sideroblasts can be a key morphological indicator of beta-thalassemia.
  • In the absence of known sideroblastic mutations or acquired causes, ringed sideroblasts warrant suspicion for beta-thalassemia.