An Indonesian adolescent with Turner syndrome and β-thalassemia in low-resource setting: A case report and literature review article

Nila Maharani, Hermina Novida

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1 Citation (Scopus)

Abstract

Background: Turner syndrome and β-thalassemia very rarely occur together in an individual. Case presentation: An Indonesian adolescent, 18 years old, complained is fatigue a week ago. She has a medical history of β-thalassemia for age 6 months and Turner syndrome identification for age 16 years. Meanwhile, she regular consumes deferasirox 500 mg every day. Physical examination showed pale conjunctiva and pale face. Body view similar children aged 13 years old. Laboratories investigation values included Hb of 7.7 gr/dL, MCV of 79.5 fL, MCH of 25.9 pg, MCHC of 28.6%, WBC of 6780/mm3, PLT of 242,000/mm3, AST of 15 U/L, ALT of 20 U/L, Ferritin of 1692.32 ng/mL, growth hormone of 0.468 ng/mL, Estradiol of <11.80 pg/mL, luteinizing hormone of 53.50 mIU/mL, and follicle-stimulating hormone of 115.19 mIU/mL. Chromosomal analysis showed Turner syndrome. The patient received a packed red cell transfusion of up Hb of 10 gr/dL, deferasirox 500 mg daily, and a contraceptive tablet. Due to financial issue in Indonesia, patient with Turner syndrome does not get proper hormonal therapy such as growth hormone, vitamin D supplementation, and other hormone replacement therapy. Discussion: Turner syndrome and thalassemia in low-resource settings are challenges in themselves, so in their implementation, only thalassemia can be controlled, but for therapy, it does not show an improvement in prognosis. Conclusion: Turner syndrome and thalassemia both worsen the patient's condition.

Original languageEnglish
Article number104854
JournalAnnals of Medicine and Surgery
Volume84
DOIs
Publication statusPublished - Dec 2022

Keywords

  • Anemia
  • Blood transfusion
  • Human and health
  • Turner syndrome
  • β-Thalassemia

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