Auditory cortex hypoperfusion: a metabolic hallmark in Beta Thalassemia

Renzo Manara, Sara Ponticorvo, Silverio Perrotta, Maria Rosaria Barillari, Giuseppe Costa, Davide Brotto, Rosanna Di Concilio, Angela Ciancio, Elisa De Michele, Pasquale Alessandro Carafa, Antonietta Canna, Andrea Gerardo Russo, Donato Troisi, Martina Caiazza, Federica Ammendola, Domenico Roberti, Claudia Santoro, Stefania Picariello, Maria Sole Valentino, Emanuela InserraRoberta Carfora, Mario Cirillo, Simona Raimo, Gabriella Santangelo, Francesco di Salle, Fabrizio Esposito, Immacolata Tartaglione

Research output: Contribution to journalArticlepeer-review

4 Scopus citations


Background: Sensorineural hearing loss in beta-thalassemia is common and it is generally associated with iron chelation therapy. However, data are scarce, especially on adult populations, and a possible involvement of the central auditory areas has not been investigated yet. We performed a multicenter cross-sectional audiological and single-center 3Tesla brain perfusion MRI study enrolling 77 transfusion-dependent/non transfusion-dependent adult patients and 56 healthy controls. Pure tone audiometry, demographics, clinical/laboratory and cognitive functioning data were recorded. Results: Half of patients (52%) presented with high-frequency hearing deficit, with overt hypoacusia (Pure Tone Average (PTA) > 25 dB) in 35%, irrespective of iron chelation or clinical phenotype. Bilateral voxel clusters of significant relative hypoperfusion were found in the auditory cortex of beta-thalassemia patients, regardless of clinical phenotype. In controls and transfusion-dependent (but not in non-transfusion-dependent) patients, the relative auditory cortex perfusion values increased linearly with age (p < 0.04). Relative auditory cortex perfusion values showed a significant U-shaped correlation with PTA values among hearing loss patients, and a linear correlation with the full scale intelligence quotient (right side p = 0.01, left side p = 0.02) with its domain related to communication skills (right side p = 0.04, left side p = 0.07) in controls but not in beta-thalassemia patients. Audiometric test results did not correlate to cognitive test scores in any subgroup. Conclusions: In conclusion, primary auditory cortex perfusion changes are a metabolic hallmark of adult beta-thalassemia, thus suggesting complex remodeling of the hearing function, that occurs regardless of chelation therapy and before clinically manifest hearing loss. The cognitive impact of perfusion changes is intriguing but requires further investigations.

Original languageEnglish (US)
Article number349
JournalOrphanet Journal of Rare Diseases
Issue number1
StatePublished - Dec 2021
Externally publishedYes

Bibliographical note

Funding Information:
Study partially supported by VALERE project Università degli Studi della Campania Luigi Vanvitelli (PI S. Perrotta).

Publisher Copyright:
© 2021, The Author(s).


  • Brain
  • Hearing loss
  • Perfusion
  • Thalassemia
  • Transfusion medicine


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