Letter to the Editor Based on Article “Analysis of Genotype–Phenotype Correlation in Patients With α-Thalassemia From Fujian Province, Southeastern China”

Abstract

I reviewed an article titled “Analysis of genotype–phenotype correlation in patients with α-thalassemia from Fujian province, Southeastern China” by Yali Pan et al. [1] at the “JCLA Journal.” I would like to thank the research team of this article who have researched and investigated the important issue of alpha thalassemia. However, there are some issues about the examined deletional mutations that can be important in future research and other researchers can provide more complete results. In this research, deletional mutations -α^3.7, -α^4.2 and --^SEA have been investigated. However, it should be noted that another deletional mutation has been seen in China, which has not been investigated in this article. This mutation is --^THAI, which is rare in China but its existence in China is mentioned in some articles [2, 3]. The importance of examining thia deletional mutation is because it causes the deletion of both alpha globin genes on the alpha gene cluster on chromosome 16, and if this mutation is combined with other single-gene or two-gene deletions on the homologous chromosome, it causes hemoglobin H disease and hydrops fetalis, respectively. Hemoglobin H disease causes severe anemia and hydrops fetalis, which is the most severe form of the disease, causes fetal death.

There are two alpha globin genes, α1 and α2, on each chromosome 16. Deletion mutations -α^3.7 and -α^4.2 cause the deletion of one of them and the other mentioned mutations cause the deletion of both alpha globin genes. Therefore, in genetic counseling, by examining the prevalent mutations in couples of reproductive age, we can prevent the birth of infants with severe forms of alpha thalassemia by giving more complete counseling to couples. Also, due to the laboratory similarity of mild forms of alpha thalassemia with iron deficiency anemia, by finding patients with alpha thalassemia, it is possible to prevent the wrong prescription of drugs for iron deficiency anemia patients.