A commentary on molecular basis of transfusion dependent beta-thalassemia major patients in Sabah

The paper described the genotype of beta thalassemia major patients in Sabah.¹ There are two interesting issues in this study, which require further studies as followed:

Filipino β⁰-deletion was the predominant mutation identified in the indigenous population of Sabah (86.9%). It would be interesting to characterize the beta globin gene haplotype of this mutation in all patients and compare it with the haplotype of Filipino β⁰-deletion patients from other countries (Philippine and Indonesia).^{2, 3} From this study we will know the population migration and why this mutation is predominant in Sabah. If all patients in Sabah have the same beta globin gene haplotype, the reason for the predominance of this mutation in Kota Kinabalu is most likely to be due to founder effects and possibly intermarriages between the various ethnic as proposed by Thong et al.^{4, 5}

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