A NEW FAMILY WITH HEREDITARY HYPERFERRITINEMIA CATARACT SYNDROME


Tuysuz G., Ozdemr N., Sonmez E., Kannengiesser C., Celkan T.

GENETIC COUNSELING, cilt.24, sa.4, ss.393-397, 2013 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 24 Konu: 4
  • Basım Tarihi: 2013
  • Dergi Adı: GENETIC COUNSELING
  • Sayfa Sayıları: ss.393-397

Özet

A new family with hereditary hyperferritinemia cataract syndrome: Hereditary hyperferritinemia cataract syndrome (HHCS) is a rare disorder with an autosomal dominant trait. The disease is defined with early onset cataract and hyperferritinemia without iron overload. Here, we report a new family with three affected members of this syndrome where the proband presented with high ferritin levels. Patients with unexplained high ferritin levels and/or juvenile onset cataract must be evaluated carefully for hereditary hyperferritinemia cataract syndrome.