Diagnosis of beta thalassemia major from bone marrow morphology


  • Conflict of interest: Nothing to report.

Illustration 1.

This bone marrow aspirate is from a 3-month old Iraqi female infant with fever, anaemia and splenomegaly. She lived in a rural area of Iraq where leishmaniasis is endemic and a bone marrow aspirate was performed because this diagnosis was suspected. Instead changes typical of beta thalassemia major were found. This image shows micronormoblastic, hyperplastic erythropoiesis; three erythroblasts each contain an alpha chain inclusion (arrows) and two late erythroblasts show very scanty, inadequately hemoglobinized cytoplasm. In addition there was basophilic stippling, dyserythropoiesis and numerous smear cells. Smear cells are not diagnostically specific; they can be seen in conditions with erythroid hyperplasia as some erythroblasts are mechanically fragile.

In this baby the suspicion of leishmaniasis led to a bone marrow diagnosis of beta thalassemia major before any transfusion had taken place. In Iraq it is common for babies with this condition to be repeatedly transfused before the diagnosis is made and in this circumstance recognition of the typical bone marrow features is important in diagnosis.