Frequency of hemoglobin E/β-thalassemia compound heterozygotes with low hemoglobin F phenotype among cases with a diagnosis of hemoglobin E homozygote, determined by high-performance liquid chromatography, in prenatal control program for β-thalassemia
- 275 Downloads
Hemoglobin (Hb) E (HBB:c.79G>A)/β-thalassemia disease is the most common thalassemia syndrome in Southeast Asian countries with a high prevalence of Hb E. Even though patients could present with a wide spectrum of clinical severity, the disease accounts for half of the severe β-thalassemia patients worldwide . Among individuals with a carrier state of β-thalassemia or Hb E and homozygous Hb E who could be at-risk couples for Hb E/β-thalassemia, individuals with Hb E/β-thalassemia themselves, especially with mild severity, may still be able to have their own children and also could be at-risk couples. The problem could occur with few Hb E/β-thalassemia compound heterozygotes who have a very low Hb F phenotype and could be misdiagnosed with Hb E homozygote by Hb analysis [2, 3, 4]. Consequently, if their spouses had inherited Hb E allele, they could be at-risk couples for Hb E/β-thalassemia. To date, there are no data regarding the frequency of Hb E/β-thalassemia cases...
This work was supported by a research grant from the Faculty of Medicine, Naresuan University.
Compliance with ethical standards
The study was approved by the institutional ethical committee.
Conflict of interest
The authors declare that they have no conflict of interest.