Pediatric Thalassemia Guidelines

Updated: Dec 16, 2019
  • Author: Hassan M Yaish, MD; Chief Editor: Vikramjit S Kanwar, MBBS, MBA, MRCP(UK), FAAP  more...
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Guidelines

Guidelines Summary

TCRN guidelines

The Thalassemia Clinical Research Network (TCRN) generated guidelines for monitoring patients with beta-thalassemia major, but these can be extrapolated to all individuals with severe thalassemia and also modified for low resource countries, where the bulk of severe thalassemia patients are found. [7]

Iron overload should be addressed as follows [7] :

  • Serum ferritin should be measured at least every 3 months, and levels >2000 ng/ml are historically associated with increased risk of complications; although this measurement has several limitations, changes over time can reflect the efficacy of chelation
  • Carry out liver function tests at least every 6 months, and more frequently in patients taking deferasirox
  • Liver biopsy should be initiated by age 5 years and rechecked every 1-2 years, with liver iron concentration (LIC) >15 mg/g dry weight reflecting significant iron overload; T2*-based MRI has proved to be an accurate noninvasive substitute, and where available this has replaced liver biopsy
  • Echocardiography and cardiac T2*-weighted MRI should be initiated by age 10 years and continued annually; cardiac risk as measured using T2*-weighted MRI is as follows: >20 ms, normal; 10-20 ms, moderate or at-risk; < 10 ms, severe or high-risk
  • Annual ophthalmologic and audiologic testing should be performed in all patients on chelation therapy

Management of endocrine complications may be difficult, so consultation with an endocrinologist may be advisable. The TCRN guidelines recommend the following [7] :

  • Throughout puberty, adolescents should be screened for hypogonadism every 6 months via a complete physical examination with Tanner staging; annual monitoring of serum gonadotropins (luteinizing hormone [LH] and follicle-stimulating hormone [FSH), early morning testosterone (for males), and estradiol (for females), in patients undergoing puberty, can be beneficial
  • An annual review should be made of patients' menstrual history and reproductive health
  • Fasting glucose to screen for diabetes should be obtained annually starting at age 10 years; HbA1c is unreliable
  • Annual screening for hypothyroidism using free thyroxine (T 4) and thyroid-stimulating hormone (TSH) is recommended
  • Serum and urine calcium should be monitored, and parathyroid hormone (PTH) and vitamin D should be evaluated annually, to screen for deficiency (a source of bone pathology)
  • Assessment of linear growth and weight should be performed at least quarterly in children and adolescents with thalassemia who are undergoing chronic transfusion therapy, and annual calculation of growth velocity should be conducted annually from birth until adulthood, to screen for growth problems; GH testing can be considered only after consulting an endocrinologist
  • Patients should be screened every 6 months, via measurement of sitting height, for chelator toxicity–associated truncal shortening
  • Measurement of head circumference should be conducted every 6 months to screen for skull changes that anemia and ineffective erythropoiesis can induce
  • Starting at age 10 years, the patient should be evaluated annually for low bone mass via dual-energy radiographic absorptiometry (DRA)