bims-conane Biomed News
on Congenital anemias
Issue of 2025–06–15
four papers selected by
João Conrado Khouri dos Santos, Universidade de São Paulo



  1. World J Clin Pediatr. 2025 Jun 09. 14(2): 101543
       BACKGROUND: Hypertriglyceridemia thalassemia syndrome is a rare condition that occurs in patients with thalassemia. It typically presents with a combination of profound anemia and milky serum. Although previous case series have demonstrated the benefit of blood transfusions in reducing serum triglycerides, information regarding clinical outcomes and standard management in this setting remains limited.
    AIM: To identify the clinical course, treatment strategies, and outcomes of patients with hypertriglyceridemia thalassemia syndrome.
    METHODS: We performed a comprehensive search of the Scopus, PubMed, and Embase databases. We included only English-language articles and did not apply any publication date limits. The databases were last accessed on September 1, 2024. This study was registered under number CRD420250587918 and included studies involving children and adults with thalassemia, hypertriglyceridemia, and available data on clinical course.
    RESULTS: A total of 14 publications were included in the analysis, all of which were case reports or case series. No higher-quality evidence was available. Among 28 children with hypertriglyceridemia thalassemia syndrome, there were 22 cases of β-thalassemia major and 6 cases of hemoglobin E/β-thalassemia, including our illustrative case. The median age of onset was 11 months, and 92.3% of cases presented prior to the first blood transfusion. The common clinical manifestations included pallor (100%) and hepatosplenomegaly (67.9%). For hypertriglyceridemia-related symptoms, lipemia retinalis and xanthomas were observed in 25.0% and 10.7% of cases, respectively. The median hemoglobin level was 5.5 g/dL, while the median triglyceride level was 935 mg/dL. For management, 92.9% of cases received blood transfusions with or without other interventions. At a median of 12 months' follow-up, all patients responded to the treatment without lipid-lowering agents, and 85.7% of cases were alive.
    CONCLUSION: Hypertriglyceridemia thalassemia syndrome occurs exclusively in young children and usually presents with anemia and severe hypertriglyceridemia prior to the first transfusion. Management with blood transfusions provides a favorable response. However, long-term regular monitoring is warranted.
    Keywords:  Children; Dyslipidemia; Hypertriglyceridemia; Thalassemia; Transfusion
    DOI:  https://doi.org/10.5409/wjcp.v14.i2.101543
  2. Ann Med Surg (Lond). 2025 Jun;87(6): 3523-3536
      Thalassemia is a hereditary blood disorder characterized by the reduced production of hemoglobin, leading to anemia and related complications. In Sub-Saharan Africa, the prevalence of thalassemia, particularly beta-thalassemia, is significant due to genetic predisposition and historical factors such as malaria endemicity. Despite the increasing awareness of the disease, thalassemia continues to be a major public health challenge in the region. Early diagnosis, effective management, and prevention strategies are limited by factors such as poor health care infrastructure, a lack of skilled professionals, and insufficient access to necessary medical treatments. This review article explores the epidemiology, diagnostic approaches, and current management practices for thalassemia in Sub-Saharan Africa. The high prevalence of thalassemia carriers in the region, particularly in malaria-endemic areas, highlights the need for genetic counseling and prenatal screening programs. Furthermore, diagnostic techniques such as hemoglobin electrophoresis and DNA testing are often underutilized due to logistical and financial constraints, leading to late diagnoses and suboptimal care. Treatment options, including blood transfusions and iron chelation therapy, remain inadequate in many parts of Sub-Saharan Africa due to the limited availability of health care resources.
    Keywords:  Sub-Saharan Africa; diagnosis; epidemiology; management; thalassemia
    DOI:  https://doi.org/10.1097/MS9.0000000000003270
  3. J Paediatr Child Health. 2025 Jun 09.
      
    Keywords:  Haematology; Oxymetry; fetal Haemoglobin; hemoglobinopathies; newborn
    DOI:  https://doi.org/10.1111/jpc.70105