Evaluation of the Clinical and Laboratory Characteristics of Previously Followed-up Thalassemia Intermedia Patients to Provide Them Better Care in the Future

J Pediatr Hematol Oncol. 2017 Aug;39(6):440-444. doi: 10.1097/MPH.0000000000000914.

Abstract

The increased awareness about the severity of complications in thalassemia intermedia patients led authorities to develop strategies for better management and follow-up of these patients. In this study, we aimed to define the clinical and laboratory characteristics in previously followed-up β-thalassemia intermedia patients and wanted to gain an insight about the follow-up of this patient population in a developing country to provide them better care in the future. The mean age at diagnosis was 4 years, and the mean hemoglobin was 7.13 g/dL. The mean age at the beginning of regular transfusion was 4.8 years. An overall 74% of patients were on a regular transfusion program. The mean ferritin values at diagnosis and the last follow-up were 487 and 1225 ng/mL, respectively. The most common mutations detected in patients were IVS-I-110, IVS-I-6, IVS-II-1, and FCS 8/9 in order of frequency. Complications were seen in 48% of patients. The most common complications were osteopenia/osteoporosis (34%), growth retardation (24%), hypogonadism (18%), and cardiomyopathy (13%). In conclusion, the relatively higher complication rate in our patients who were previously treated highlights once again the need for an increased effort for optimal management and follow-up of this specific group of patients.

MeSH terms

  • Adolescent
  • Blood Transfusion
  • Bone Diseases, Metabolic / etiology
  • Cardiomyopathies / etiology
  • Child
  • Child, Preschool
  • Disease Management
  • Ferritins / blood
  • Follow-Up Studies
  • Growth
  • Humans
  • Hypogonadism / etiology
  • Mutation
  • beta-Thalassemia / complications*
  • beta-Thalassemia / therapy*

Substances

  • Ferritins