title: Endocrine profile of β-thalassemia major patients followed from childhood to advanced adulthood in a tertiary care center.
abstract: OBJECTIVE
  Chronic iron overload resulting from frequent transfusions, poor compliance to efficient chelation therapy and chronic liver disease is basically responsible for the most severe complications of thalassemia major (TM). Before conventional treatment, TM was entirely childhood disease with a very short survival. Today, survival improved to 40-50 years and becomes a prevalent disease of adulthood and in the near future it will be one of senility. Furthermore, clinical phenotype of TM is changing with age and appearance of severe complications from the heart and endocrine glands that require special health care from well-informed specialists.
  
  
  OBJECTIVE
  The aims of our study were to: (1) Imprint the clinical profile of long-lived TM patients; (2) evaluate retrospectively the cumulative incidence of endocrine diseases; (3) identify potential risk factors; and (4) orient the physicians in the modified clinical phenotype and the relative patients' health needs.
  
  
  METHODS
  A retrospective cross-sectional study followed from childhood to adulthood by the same physician in a tertiary thalassemia clinic.
  
  
  METHODS
  Forty-three long-lived TM patients (mean age: 50.3 ± 10.8 years; range: 45.8-59.5 years; 23 females) were studied.
  
  
  METHODS
  An extensive medical history, with detailed clinical and laboratory data, endocrine complications, and current treatments, was obtained.
  
  
  RESULTS
  The data indicate that 88.4% of adult TM patients suffered from at least one endocrine complication. The majority of patients developed endocrine complications in the second decade of life when serum ferritin level was very high (12/23 TM female and 8/20 TM male patients, the serum ferritin levels at the diagnosis were above 5.000 ng/ml).
  
  
  CONCLUSIONS
  These data underline that endocrine and bone complications in adult TM patients are highly prevalent and necessitate close monitoring, treatment, and follow-up. Physicians' strategies to optimize chelation therapy include identifying patients who are at risk for developing organ damage, developing chelation plans, promoting compliance, and educating patients. Several clinical aspects remain to be elucidated such as growth and impairment of glucose tolerance in relation to hepatitis C virus infection. Furthermore, affordable worldwide-established long-term treatment protocols for hypogonadism and osteoporosis are needed.
authors.affiliation: Unit of Pediatric and Adolescent Outpatient Clinic, Quisisana Hospital, Ferrara, Italy.
authors.forename: Vincenzo
authors.initials: V
authors.lastname: De Sanctis
authors.affiliation: Department of Pediatrics, Ain Shams University, Cairo, Egypt.
authors.forename: Heba
authors.initials: H
authors.lastname: Elsedfy
authors.affiliation: Department of Pediatrics, Division of Endocrinology, Alexandria University Children's Hospital, Alexandria, Egypt.
authors.forename: Ashraf T
authors.initials: AT
authors.lastname: Soliman
authors.affiliation: Department of Pediatrics, Ain Shams University, Cairo, Egypt.
authors.forename: Ihab Zaki
authors.initials: IZ
authors.lastname: Elhakim
authors.affiliation: Student's Hospital, Ministry of Health, Alexandria, Egypt.
authors.forename: Nada A
authors.initials: NA
authors.lastname: Soliman
authors.affiliation: Department of Primary Health Care, Abu Nakhla Hospital, Doha, Qatar.
authors.forename: Rania
authors.initials: R
authors.lastname: Elalaily
authors.affiliation: First Department of Paediatrics, University of Athens, Athens, Greece.
authors.forename: Christos
authors.initials: C
authors.lastname: Kattamis
keywords: Endocrine complications; growth; hepatitis C virus; iron overload; thalassemia