In 1925, a pediatrician named Thomas Colley introduced the term thalassemia. Colley's observations focused on children primarily belonging to Italian families or immigrants from the Mediterranean countries nearby. These children exhibited severe anemia, enlarged spleens, and deformities in their facial and skull bones (1). These children exhibited severe anemia, enlarged spleens, and deformities in their facial and skull bones. Consequently, Colley named this condition thalassemia. The term itself is derived from two components: "thalasa," meaning sea, and "omiya," meaning blood. Hence, thalassemia denotes a blood disease that originates from regions surrounding the sea (2). Thalassemia is a genetic disorder characterized by a reduction or absence of globin chains, which are essential components of hemoglobin. This reduction is caused by mutations in the genes responsible for the production of hemoglobin, leading to impaired oxygenation in affected individuals (3).

As the most prevalent hereditary disease worldwide, thalassemia affects both males and females equally. The alpha and β genes play a crucial role in the synthesis of the hemoglobin chain (4). The classification of thalassemia is based on the specific reduction or absence of each hemoglobin chain. Alpha thalassemia, located on chromosome 16, is one of the most prevalent hemoglobin disorders globally and is inherited through four lupus genes. On the other hand, β-thalassemia, whose coding gene is situated on chromosome 11, is a hemoglobin disorder characterized by anemia that is passed down from parents to children. Β-thalassemia is commonly found in individuals from the Mediterranean region (5).

The β-globin chain's production rate is either reduced or absent in β-thalassemia, a condition first defined by Cooley in 1925. This deficiency primarily leads to microcytic and hypochromic anemia, as well as a wide range of syndromic forms. The severity of the anemia determines the classification into β-thalassemia major, minor, or intermediate (6, 7).

2. Material and methods

The research was carried out at the City Medical Complex Kart-e-Parwan hospital in Kabul city during the first half of 1401. It was a descriptive-cross-sectional study that included all anemic children referred to the hematology department of the hospital. The samples were collected using a simple (convenience) method, and the research sample was taken from the patients based on the hospital database. The sample size for this study was 216 children with hemoglobin levels ranging between 5 and 12 mg/dL. The collected data includes the registry number, age, sex, and type of Hb level. Hemoglobin electrophoresis is carried out utilizing the D10 automatic machine, a dual system that effectively separates hemoglobins within a mere 10 minutes.

The underlying mechanism employed in this process is chromatography. The patient's EDTA blood is utilized, and its formula is represented as HBF+HBA2-100=HBA1. Through the use of electrophoresis, various forms of hemoglobin can be quantitatively determined. Hemoglobin electrophoresis can be performed using either an acidic citrate agar buffer or an alkaline cellulose acetate buffer. In the more commonly used alkaline system, hemoglobin molecules are placed in the alkaline buffer of cellulose acetate, which possesses a net negative charge. Consequently, they migrate towards the positive electrode of the electrophoresis system. This method is known for its rapidity and reproducibility (8). The data were analyzed using SPSS 24 statistical software. The data derived in this study are presented using mean (SD), standard deviation (SD), frequency (F), and percentage (P).

3. Results

A total of 1224 children visited the hematology department of City Medical Complex, out of which 216 children with low hemoglobin levels underwent electrophoresis testing for the diagnosis and determination of the cause of anemia. A total of 216 children with low hemoglobin levels were examined using electrophoresis to diagnose and determine the cause of anemia. Among these children, 37 (17.5%) were diagnosed with β-thalassemia, while no cases of alpha-thalassemia were detected. The remaining anemic children were found to have different types of microcytic hypochromic anemias (Table 1). The gender-based frequency distribution of β - thalassemia reveals that 53.5% of males have β-thalassemia minor, while 46.5% of females have the same condition. In terms of β-thalassemia intermediate, 58.7% of males are affected, compared to 41.3% of females. For β-thalassemia major, the percentage is 66.7% in males and 33.3% in females. Additionally, among those who are carriers and have normal health, 62.7% are males and 37.3% are females (Table 1). In contrast, β-thalassemia major is predominantly observed in children under 6 years old, with a percentage of 88.9%. In children aged 6–12 years old, the prevalence drops significantly to 11.1%. Interestingly, no cases of thalassemia major were observed in children aged 12–18 years (Table 2). Among children under 6 years old, 44.2% have β-thalassemia minor, 50% have β-thalassemia intermedia, and 88.9% have β-thalassemia major.

For children aged 6–12 years, the percentages are 30.2% for β-thalassemia minor, 26.1% for β-thalassemia intermedia, and 11.1% for β-thalassemia major. In children aged 12–18 years, 25.6% have β-thalassemia minor, 29.3% have β-thalassemia intermedia, and no cases of β-thalassemia major were observed. Among children who are carriers (heterozygous) and have normal hemoglobin levels, the distribution is 50% for children under 6 years old, 33.9% for children aged 6–12 years, and 16.1% for children aged 12–18 years (Table 3). Furthermore, the findings indicated that β-thalassemia minor constituted 50.7% of the cases, intermedia accounted for 24.5%, major comprised 17.5%, and silent carrier represented 7.4%. Nevertheless, the predominant classification among thalassemia cases was minor (Table 4).

Table 1: Prevalence of anemia and thalassemias in children

4. Discussion

β-thalassemia is an inherited blood disorder that affects the production of hemoglobin, the protein responsible for carrying oxygen in red blood cells throughout the body. It is classified into two types: thalassemia major (also known as Cooley's anemia or transfusion-dependent thalassemia) and thalassemia intermedia (a non-transfusion-dependent form) (9). Beta thalassemia exhibits varying prevalence rates among diverse populations and geographic regions. It is particularly common in Mediterranean countries such as Greece, Italy, and Cyprus, as well as in Southeast Asia and specific areas of Africa. In these regions, the carrier frequency can reach as high as 10-15% in certain populations (10).

The prevalence of β-thalassemia in anemic children can vary depending on the population and region being studied. In this study, we found that 17.6% of children with anemia were diagnosed with beta-thalassemia. Among these, β-thalassemia major was the most common type, while gender was not associated with beta-thalassemia. Additionally, β-thalassemia major had the highest prevalence in children under 6 years old, as the symptoms of this disease start around 6 months of age, and these children have a lifespan until the age of 10. Furthermore, based on electrophoresis parameters, β-thalassemia minor had the highest percentage, indicating its hereditary nature and transmission from carrier parents. Gursel, Orhan, et al. revealed that the male gender represented a majority, comprising over 50% of the cases. β-thalassemia major was the predominant type, accounting for 98.97% of the cases, while β-thalassemia intermedia accounted for 3.21%. Notably, the age group under 3 years exhibited the highest prevalence of β-thalassemia major, with 40 individuals affected (11). Dilip Kumar's study conducted in Bengaluru, India, in 2019 uncovered the prevalence of beta thalassemia among 85 individuals. The study primarily focused on children aged 12 and below, revealing that 62.5% of those affected were male, while the remaining 37.5% were female (12).

Table 2: Prevalence of different types of beta thalassemia in children based on their gender.

Sajjad Afrouz and colleagues conducted a study in 2016 in Kohgiluyeh, Iran, which identified 150 individuals with beta-thalassemia. The study focused on individuals aged 20–30 years, with 51.4% being male and 48.6% being female (13). β-thalassemia can give rise to various complications, such as stunted growth and development, issues with the heart, liver, and spleen, problems with the endocrine system, blood clotting, and osteoporosis (14). It is crucial to conduct regular physical examinations, perform blood tests, and refrain from taking iron supplements in order to provide proper and continuous care for children affected by β-thalassemia. Additionally, seeking genetic counseling can prove advantageous in managing the condition effectively (15). Treatment options for this condition may include the potential administration of blood transfusions and the surgical removal of the spleen. Additionally, healthcare professionals may recommend daily doses of folic acid as part of the prescribed treatment plan (16). β-thalassemia poses a significant global health burden, particularly in regions with a high carrier frequency. The management of β-thalassemia involves the regular administration of blood transfusions and iron chelation therapy to prevent iron overload (17).

Table 3. The prevalence of β-thalassemias in children varies based on age.

Table 4: Prevalence of various types of beta thalassemia was determined based on diagnostic parameters determined by electrophoresis.

Despite advancements in treatment, complications can still arise, including ocular manifestations such as refractive errors, abnormalities in the retina, and dysfunction of the tear film (18). Healthcare professionals should be well-informed about the potential ocular implications of β-thalassemia in children with anemia and should regularly monitor their eye health (19). Early detection and intervention can play a crucial role in preventing or minimizing the impact of ocular complications on visual function (20).

5. Conclusion

In this investigation, it was discovered that 17.6% of children with anemia had beta-thalassemias, and among them, thalassemia major was the most common, while β-thalassemia was found to be independent of gender; furthermore, β-thalassemia major was most prevalent in children under 6 years old due to early onset symptoms and shorter lifespan, and in terms of electrophoresis parameters, β-thalassemia minor had the highest occurrence due to its hereditary nature and transmission from parents, which is particularly significant in traditional societies with family marriages and limited knowledge.

Acknowledgment

This study is supported by the City Medical Complex, Kabul, Afghanistan. We thank all officials for their valuable support in providing the equipment and facilities for this study.

Conflict of interest

We declare that we have no conflict of interest.

Reference