G

 

GATA1 sitopenisi (GATA1-related cytopenia)

Kalıtsal - XLR

Trombositlerde işlev yetersizlikleri

Anemi (talasemi)

Nötropeni

Konjenital eritropoietik porfirya (congenital erythropoietic porphyria):

Pembe idrar (ilk bulgu)

Eritrodonti (kırmızı dişler)

Hemolitik anemi

Güneşe duyarlı deri

Güneş gören alanlarda vezikül/bül oluşması

Veziküllerin ve büllerin infekte olması

Hipo/hiperpigmentasyon alanları

Kornea ülserleri

Hipertrikoz

Osteopeni

 

  • Desnick RJ, Astrin KH. Congenital erythropoietic porphyria: advances in pathogenesis and treatment. British Journal of Haematology, 117:779–795, 2002

  • Kontos AP, Ozog D, Bichakjian C, Lim HW. Congenital erythropoietic porphyria associated with myelodysplasia presenting in a 72-year-old man: report of a case and review of the literature. British Journal of Dermatology, 148:160–164, 2003 

  • Bishop DF, Johansson A, Phelps R, et al. Uroporphyrinogen III synthase knock-in mice have the human congenital erythropoietic porphyria phenotype, including the characteristic light-induced cutaneous lesions. American Journal of Human Genetics, 78:645–658, 2006

  • Phillips JD, Steensma DP, Pulsipher MA, et al. Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria. Blood, 109:2618–2621, 2007