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Background: Hemoglobin E/β-thalassemia is a common inherited hemoglobin disorder among South Asian countries. The phenotypically diverse presentation of the disease is often attributed to coinheritance of β-globin (HBB) gene mutations. The current study described the phenotype and genetic basis of Hb E/β-thalassemia patients and assessed its relation with clinical severity.Methods: A total of 32 patients were included in this cross-sectional study. Cases were confirmed by using capillary hemoglobin electrophoresis or high-performance liquid chromatography. Those with positive findings were further analyzed with clinical information and ancestral data either from the interview or medical records. Data collection was confined to May 2019 and July 2020. Gene sequencing was performed using Sanger’s sequencing method for mutational analysis, and Mahidol scoring was used to grade clinical severity.Result: A total of 13 heterozygous mutations were identified in the HBB gene. Of all, IVS-1-5 (G>C) (n=17, 53.1%) was the most common, and codon 30 (G>C) (n=4, 12.5%) was the second most common mutations. According to the Mahidol scoring system, 37.5% (n=12) were classified as phenotypically mild, 43.8% (n=14) as moderate and 18.8% (n=6) as severe. The IVS-1-5(G>C) mutation was found to be frequently associated with severe disease and showed no mild form.Conclusion: The present study described the clinical severity and its association with genetic mutations in hemoglobin E/β-thalassemia patients. This finding could guide individually tailored management strategies for this particular group of patients.

RBC changes that are known to confer protection against malarial infection affect the haemoglobin, RBC membrane or the enzymes. The most common defect is thalassemia/ haemoglobinopathy which is the most prevalent genetic disorder in the world. Coexistence of different types of thalassemia/ haemoglobinopathy has produced variable clinical presentations. We present a family with two offsprings diagnosed as Hb E Beta Thalassemia and SEA Ovalocytosis (SAO), presenting with severe anaemia and other clinical symptoms. The thalassemia syndrome, SAO, clinical presentation and laboratory results are discussed. Coexistence of multiple RBC changes are not common and this is believed to be the first of such cases reported.

One of the growth indicators that can be used to assess a child’s developmental growth is through skeletal maturation. Skeletal maturity can be evaluated by using anatomical changes of the cervical vertebral bones observed on the lateral cephalometric radiographs. The purpose of this study was to determine the stage of cervical vertebrae maturation of Hb E β thalassemia patients by comparing the shape changes of the second to fourth cervical vertebrae bodies with a control group. The design of this study was cross sectional. The subjects were children with Hb E β thalassemia aged 9 – 14 years. The results showed that the retarded maturation of the cervical vertebrae in Hb E β thalassemia was not found in the subjects of pre-puberty age (9 – 11 years old), but in those of puberty age (12 – 14 years old).

Haemoglobin E beta thalassemia (HbE beta thalassemia) has a remarkable variability in clinical expression ranging from a mild form of thalassemia intermedia to a transfusion dependent condition. An overlap between the mild variety of HbE beta thalassemia and homozygous HbE disease is common, however, differentiation is required for early institution of therapy and for predicting the later clinical course. Fifty cases of Hb E syndrome comprising of 43 cases of Hb E beta thalassemia and 7 cases of homozygous HbE disease were studied. Their clinico- haematological features and results of high performance liquid chromatography (HPLC) were analysed.