Clinical and Experimental Pediatrics

Original Article

Assessment of natural killer cell subpopulations in pediatric patients with transfusion-dependent β-thalassemia major

Fathia Elbassal, Mohamed Soliman, Nourhan Mohamed, Mai El-Hamid, Hanan El-Sheity

Background: Iron overload is a hallmark complication in patients with transfusion-dependent β-thalassemia major, primarily resulting from ineffective erythropoiesis, repeated blood transfusions, and increased gastrointestinal iron absorption. This iron accumulation, reflected in elevated serum ferritin levels, has been implicated in immune dysregulation. Natural killer (NK) cells are a pivotal component of the innate immune system, known for their cytotoxic activity and...

DOI: https://doi.org/10.3345/cep.2025.01046 [Accepted]

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Hematology

Hyperhomocysteinemia in pediatric β-thalassemia: links to vitamin cofactor deficiencies and oxidative stress

Arzu Dadashova, Gunay Aliyeva, Rana Rahimova, Gulnara Azizova, Khayala Mammadova

Clin Exp Pediatr. 2025;68(10):819-830. Published online July 8, 2025

Question: What are the biochemical and clinical correlates of hyperhomocysteinemia in pediatric β-thalassemia, and how does it relate to vitamin status, oxidative stress, and splenectomy?
Finding: Most pediatric β-thalassemia patients exhibited severe hyperhomocysteinemia, which was strongly associated with folate and B₁₂ deficiencies and influenced oxidative stress patterns, particularly in splenectomized individuals.
Meaning: These findings suggest that routine monitoring and correction of B-vitamin deficiencies may mitigate hyperhomocysteinemia-related risks in pediatric thalassemia.

DOI: https://doi.org/10.3345/cep.2025.00556

Impact of Xmn1 polymorphism on hydroxyurea therapy in children with HbE-β non-transfusion dependent thalassemia: a cohort study

Saheli Roy, Paramita Bhattacharya, Atanu Kumar Dutta, Mrinal Kanti Das

Clin Exp Pediatr. 2025;68(6):437-444. Published online February 3, 2025

Question: Does the T allele of Xmn1 polymorphism favorably influence hydroxyurea efficacy in children of Eastern descent with fetal hemoglobin (HbE)-β nontransfusion dependent thalassemia (NTDT)?
Finding: Decrease in transfusion requirement and increase in height following hydroxyurea therapy was noted in both groups, however, change in CT was more critical than that in CC genotype.
Meaning: T allele of Xmn1 polymorphism favorably influences hydroxyurea efficacy in children with HbE-β NTDT.

DOI: https://doi.org/10.3345/cep.2024.01284

Effect of cyclic pamidronate administration on osteoporosis in children with β-thalassemia major: a single-center study

Mahmoud A. El-Hawy, Nagwan Y. Saleh

Clin Exp Pediatr. 2022;65(8):405-409. Published online June 7, 2022

Web of Science 2 Crossref 3

Question: What is the effect of cyclic pamidronate administration on osteoporosis in children with β-thalassemia major?
Finding: The dual-energy x-ray absorptiometry scan findings of children with β-thalassemia major and osteoporosis were improved after pamidronate administration.
Meaning: Cyclic pamidronate effectively treated osteoporosis in children with β-thalassemia major.

DOI: https://doi.org/10.3345/cep.2019.00535

Original Article - Clinical trial

WITHDRAWN:Randomized controlled trial of effect of N-acetylcysteine as an antioxidant on iron overload in children with thalassemia major

Yasmen A Mohamed, Mohamed H Meabed, Amany Ashraf, Dalia S Morgan, Mostafa G Abdul Latif, Rehab M Abd-Elkareem, Heba M Ahmed

Background: β-Thalassemias are characterized by the presence of mutations in the globin gene that result in the absence or reduced synthesis of β-globin chains of the hemoglobin tetramer. Several studies have reported increased oxidative stress in β-thalassemia major (β-TM) patients. N-acetylcysteine (NAC), a derivative of L-cysteine amino acid, is commonly used as a mucolytic drug. Numerous studies have reported efficient...

DOI: https://doi.org/10.3345/cep.2020.00227

Original Article

Hematology

Effects of α-tocopherol on hemolysis and oxidative stress markers on red blood cells in β-thalassemia major

Nora Sovira, Munar Lubis, Pustika Amalia Wahidiyat, Franciscus D. Suyatna, Djajadiman Gatot, Saptawati Bardosono, Mohammad Sadikin

Clin Exp Pediatr. 2020;63(8):314-320. Published online August 15, 2020

Web of Science 13 Crossref 12

Question: Is the α-tocopherol as an exogenous antioxidant supplementation effective in improving hemolysis and oxidative stress on β-thalassemia major?
Finding: We found significant enhancements in plasma haptoglobin were noted in the α-tocopherol group (3.01 mg/dL; range, 0.60–42.42 mg/dL; P=0.021).
Meaning: The α-tocopherol can improve hemolysis by increasing the haptoglobin level as hemolysis marker.

DOI: https://doi.org/10.3345/cep.2019.00542

Case Report

A Case of Dominantly Inherited β Thalassemia Due to Hb Dieppe

You Kyoung Choi, Hong Jin Lee, Won Il Park, Kyung Ja Lee, Sung Ha Kang, Ji Yeon Kim, Sung Sup Park

Clin Exp Pediatr. 2002;45(5):659-663. Published online May 15, 2002

β thalassemias are usually transmitted as autosomal recessive traits. However, some dominant forms of β thalassemia have been identified in individuals who have inherited a single copy of an abnormal β globin gene. Thalassemia intermedia with mild anemia, jaundice, and splenomegaly has been observed in these patients. Electrophoresis has shown elevated Hemoglobin(Hb) A2 and Hb F levels. In particular, there...

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Two Cases of Familial β-Thalassemia Minor

Jeong Hwa Hwang, Hyeon Jeong Lee, Jun Hur, Gae Soon Yeo, Hee Jin Kim, Chan Yung Kim, Tae Jun Yun

Clin Exp Pediatr. 1995;38(6):867-871. Published online June 15, 1995

The β-thalassemia minor is a hereditary microcytic, hypochromic anemia characterized by decerased producion of β-globin polypeptide chain. The β-thalassemia minor should be clinically differentiated from iron deficiency anemia. The thalassemia are common in the Medeterranean region, the Middle Ease, the Africa, Indea, and Thailand, but rare in Korea. The authors experienced two cases of familial β-thalassemia minor 4-year 7-month-old female patient and...

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A Case of Familial β-thalassemia Minor

Sung Hak Kim, Byung Keun Han, Hyun Tae Kim, Kyung Ho Lee, Cheol Hee Hwang, Moon Ki Cho, Kyeong Ran Choi

Clin Exp Pediatr. 1995;38(4):557-560. Published online April 15, 1995

Thalassemias are a diverse group of inherited anemias that are characterized by defective synthesis of one or more globin chains. The thalassemias are classified according to the globin chain or chains the synthesis of which is deficient : α-, β-, δβ-, δ-, and γδβ- Thalassemia. They are common in the Mediterranean region, The Middle East, India, Burma, and Southeast Asia. Beta-thalassemia minor,...

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