.
OVERVIEW
Thalassemia (congenital hemolytic anemia) is an inherited hematologic disorder with an autosomal recessive pattern, characterized by impaired synthesis of globin chains (α or β) in the hemoglobin (Hb) molecule.
When one or more globin genes are mutated or deleted, the body fails to produce sufficient normal Hb, leading to chronic anemia, hemolysis, and iron overload [1][2].
If both parents are carriers of the thalassemia gene, each pregnancy carries a 25% risk of having a child with severe disease, 50% chance of being a carrier, and 25% chance of being unaffected [3][4].
In Vietnam, it is estimated that about 13.8% of the population (~13–14 million people) carry the thalassemia gene. Each year, around 8,000 children are born with the disease, of whom approximately 2,000 have severe forms requiring lifelong regular blood transfusions.
PATHOPHYSIOLOGY
In a normal body, hemoglobin (Hb) consists of four globin chains (2 α and 2 β).
Consequently, chronic anemia develops, stimulating bone marrow hyperactivity, which leads to skull and facial bone deformities, hepatosplenomegaly, and increased iron absorption with iron accumulation in the liver, heart, and endocrine organs [7][8].
CLASSIFICATION AND CLINICAL MANIFESTATIONS
Carriers: asymptomatic but capable of passing the defective gene to offspring.
Mild to intermediate forms: present with mild to moderate anemia, which may not require regular blood transfusions.
Severe form: manifests early (typically between 6–24 months of age) with severe anemia, hepatosplenomegaly, bone deformities, growth retardation, and a lifelong need for regular blood transfusions.
α-thalassemia: common in Southeast Asia; the Hb Bart’s form (deletion of all 4 α genes) leads to hydrops fetalis and early fetal death.
β-thalassemia: prevalent in Vietnam; often coexists with HbE, forming the β-thal/HbE variant — the most common form in the region.
EPIDEMIOLOGY AND BURDEN IN VIETNAM
According to the National Institute of Hematology and Blood Transfusion (2024):
13.8% of the population (equivalent to 13–14 million people) carry the thalassemia gene.
8,000 new cases are diagnosed each year, including 2,000 severe cases requiring lifelong blood transfusions.
The disease is present in all 63 provinces and among 54 ethnic groups; several northern ethnic minorities (Tay, Nung, Dao, Hmong) have a 30–40% carrier rate.
The estimated cost of treatment for one severe patient up to the age of 30 is around 3 billion VND.
Blood demand for thalassemia patients accounts for nearly 25% of the total national blood supply.
Vietnam is facing a significant medical, economic, and social burden due to thalassemia; however, most cases can be prevented through early genetic screening and counseling strategies.
DIAGNOSIS AND SCREENING
Detection and control of thalassemia involve three levels of screening and diagnosis:
Individual diagnosis: identifying affected individuals and determining the specific disease type.
Community genetic screening: detecting carriers and providing premarital counseling.
Newborn screening: early detection of hemoglobin abnormalities in infants for timely intervention.
At the core of all three levels is Capillary Electrophoresis (CE) technology — a powerful tool that enables quantification, separation, and detection of abnormal hemoglobin variants.
CE technology separates hemoglobin molecules based on differences in their charge-to-mass ratio as they migrate through ultra-fine silica capillaries under a high-voltage electric field. With its high-resolution separation capability, CE allows for precise quantification of HbA, HbA₂, and HbF, which are critical indicators for screening and diagnosing both alpha and beta thalassemia.
In addition, this technology can detect more than 525 hemoglobin variants, including HbE, HbS, HbC, HbD, Hb Lepore, Hb Constant Spring, Hb Q-Thailand, and many others [9][10].
CONCLUSION
Thalassemia is a common inherited hematologic disorder that can be effectively prevented and managed through early diagnosis, widespread screening, and coordinated disease management.
Within this strategy, Capillary Electrophoresis (CE) plays a crucial role as a key diagnostic tool — supporting the identification of patients, detection of carriers, providing valuable epidemiological data, and guiding genetic counseling. These contributions collectively help reduce the incidence of severe thalassemia in newborns.
REFERENCES
Weatherall DJ, Clegg JB. The Thalassaemia Syndromes. 5th ed. Oxford: Wiley-Blackwell; 2021.
World Health Organization. Thalassaemia and Other Haemoglobinopathies: Global Review. Geneva: WHO; 2024.
Cappellini MD, Cohen A, Porter J, Taher A, Viprakasit V. Guidelines for the Management of β-Thalassemia. Haematologica. 2020;105(5):1115–1126.
National Institute of Hematology and Blood Transfusion. Guidelines for Diagnosis and Treatment of Thalassemia. Hanoi; 2021.
StatPearls. Beta Thalassemia. NCBI Bookshelf; 2023.
Giang NT et al. Textbook of Hematology and Blood Transfusion. Hanoi: Medical Publishing House; 2020.
Rund D, Rachmilewitz E. β-Thalassemia. N Engl J Med. 2020;382(8):727–739.
Thalassaemia International Federation (TIF). Global Thalassemia Review 2024.
Sebia SA. CE Technology for Hemoglobinopathies. Technical Note; 2024.
Mandour S et al. Characterization of Hb Variants Using Capillary Electrophoresis. Clin Chem Lab Med. 2025.
